|
| Entrez Id: |
5443 |
| Gene Symbol: |
POMC |
POMC
|
0.300 |
Therapeutic
|
disease |
CTD_human |
Adrenocorticotropic hormone and vigabatrin treatment of children with infantile spasms underlying cerebral palsy.
|
8980841 |
1997 |
|
| Entrez Id: |
224 |
| Gene Symbol: |
ALDH3A2 |
ALDH3A2
|
0.110 |
AlteredExpression
|
disease |
BEFREE |
The impaired activity of FALDH leads to the clinical symptom triad of generalized ichthyosis, mental retardation, and spastic diplegia or tetraplegia.
|
15834613 |
2005 |
|
| Entrez Id: |
224 |
| Gene Symbol: |
ALDH3A2 |
ALDH3A2
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
1499 |
| Gene Symbol: |
CTNNB1 |
CTNNB1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.
|
27915094 |
2017 |
|
| Entrez Id: |
1499 |
| Gene Symbol: |
CTNNB1 |
CTNNB1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.
|
24668549 |
2014 |
|
| Entrez Id: |
1499 |
| Gene Symbol: |
CTNNB1 |
CTNNB1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
[Intraoperative echocardiographic assessment of left ventricular muscle volume changes after intracardiac operation under cardiopulmonary bypass].
|
2614104 |
1989 |
|
| Entrez Id: |
2512 |
| Gene Symbol: |
FTL |
FTL
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
10075 |
| Gene Symbol: |
HUWE1 |
HUWE1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
8905 |
| Gene Symbol: |
AP1S2 |
AP1S2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
RAB3GAP2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
6683 |
| Gene Symbol: |
SPAST |
SPAST
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
4990 |
| Gene Symbol: |
SIX6 |
SIX6
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
51091 |
| Gene Symbol: |
SEPSECS |
SEPSECS
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
51218 |
| Gene Symbol: |
GLRX5 |
GLRX5
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
8260 |
| Gene Symbol: |
NAA10 |
NAA10
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
546 |
| Gene Symbol: |
ATRX |
ATRX
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
10381 |
| Gene Symbol: |
TUBB3 |
TUBB3
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
6657 |
| Gene Symbol: |
SOX2 |
SOX2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
120 |
| Gene Symbol: |
ADD3 |
ADD3
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
10084 |
| Gene Symbol: |
PQBP1 |
PQBP1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
3908 |
| Gene Symbol: |
LAMA2 |
LAMA2
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
6872 |
| Gene Symbol: |
TAF1 |
TAF1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
2571 |
| Gene Symbol: |
GAD1 |
GAD1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
3766 |
| Gene Symbol: |
KCNJ10 |
KCNJ10
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
1499 |
| Gene Symbol: |
CTNNB1 |
CTNNB1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|