|
| Entrez Id: |
4208 |
| Gene Symbol: |
MEF2C |
MEF2C
|
0.400 |
Biomarker
|
phenotype |
CTD_human |
Refining the phenotype associated with MEF2C haploinsufficiency.
|
20412115 |
2010 |
|
| Entrez Id: |
4208 |
| Gene Symbol: |
MEF2C |
MEF2C
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
7200 |
| Gene Symbol: |
TRH |
TRH
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Distinct grooming patterns induced by intracerebroventricular injection of CRH, TRH and LHRH in male rats.
|
8736133 |
1996 |
|
| Entrez Id: |
1392 |
| Gene Symbol: |
CRH |
CRH
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Corticotropin-releasing hormone is a rapid and potent convulsant in the infant rat.
|
1914160 |
1991 |
|
| Entrez Id: |
253738 |
| Gene Symbol: |
EBF3 |
EBF3
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
|
28017372 |
2017 |
|
| Entrez Id: |
4286 |
| Gene Symbol: |
MITF |
MITF
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations.
|
26650189 |
2016 |
|
| Entrez Id: |
4286 |
| Gene Symbol: |
MITF |
MITF
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.
|
25803691 |
2015 |
|
| Entrez Id: |
4286 |
| Gene Symbol: |
MITF |
MITF
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history.
|
23167872 |
2013 |
|
| Entrez Id: |
4286 |
| Gene Symbol: |
MITF |
MITF
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.
|
22012259 |
2011 |
|
| Entrez Id: |
2896 |
| Gene Symbol: |
GRN |
GRN
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
55180 |
| Gene Symbol: |
LINS1 |
LINS1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5625 |
| Gene Symbol: |
PRODH |
PRODH
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2314 |
| Gene Symbol: |
FLII |
FLII
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
10716 |
| Gene Symbol: |
TBR1 |
TBR1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
54413 |
| Gene Symbol: |
NLGN3 |
NLGN3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
10577 |
| Gene Symbol: |
NPC2 |
NPC2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
TRAPPC6B
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
TMEM106B
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
7467 |
| Gene Symbol: |
WHCR |
WHCR
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
25914 |
| Gene Symbol: |
RTTN |
RTTN
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
55773 |
| Gene Symbol: |
TBC1D23 |
TBC1D23
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2290 |
| Gene Symbol: |
FOXG1 |
FOXG1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
79143 |
| Gene Symbol: |
MBOAT7 |
MBOAT7
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5530 |
| Gene Symbol: |
PPP3CA |
PPP3CA
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
6638 |
| Gene Symbol: |
SNRPN |
SNRPN
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|