×
Entrez Id:
5443
Gene Symbol:
POMC
POMC
0.300
Therapeutic
phenotype
CTD_human
Prevention of delayed traumatic facial palsy.
4327920
1971
×
Entrez Id:
1351
Gene Symbol:
COX8A
COX8A
0.110
Biomarker
phenotype
HPO
×
Entrez Id:
1351
Gene Symbol:
COX8A
COX8A
0.110
GeneticVariation
phenotype
BEFREE
Most frequent clinical features were bilateral cranial nerve VIII nerve sheath tumor (NST) in 87%, spinal NST in 80%, hearing loss in 65%, spinal dysfunction in 50%, intracranial meningioma in 49%, and facial paresis in 36%.
28720529
2017
SLC25A42
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
116228
Gene Symbol:
COX20
COX20
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
92667
Gene Symbol:
MGME1
MGME1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
4703
Gene Symbol:
NEB
NEB
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
64207
Gene Symbol:
IRF2BPL
IRF2BPL
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
4632
Gene Symbol:
MYL1
MYL1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
55154
Gene Symbol:
MSTO1
MSTO1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
50484
Gene Symbol:
RRM2B
RRM2B
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
2318
Gene Symbol:
FLNC
FLNC
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
1340
Gene Symbol:
COX6B1
COX6B1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
4574
Gene Symbol:
TRNS1
TRNS1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
7084
Gene Symbol:
TK2
TK2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
4976
Gene Symbol:
OPA1
OPA1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
6341
Gene Symbol:
SCO1
SCO1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
100131801
Gene Symbol:
PET100
PET100
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
122622
Gene Symbol:
ADSS1
ADSS1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
10059
Gene Symbol:
DNM1L
DNM1L
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
23345
Gene Symbol:
SYNE1
SYNE1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
51204
Gene Symbol:
TACO1
TACO1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
22868
Gene Symbol:
FASTKD2
FASTKD2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.100
Biomarker
phenotype
HPO