Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2
0.120 GeneticVariation disease BEFREE Charcot-Marie-Tooth disease type 4 C (CMT4C) is an autosomal recessive form of demyelinating peripheral neuropathy caused by mutations in SH3TC2, characterized by early onset, spine deformities, and cranial nerve involvement. 30653784 2019
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2
0.120 GeneticVariation disease BEFREE Scoliosis and cranial nerve involvement are frequent features of this CMT4 subtype, and their presence should prompt the clinician to look for SH3TC2 gene mutations. 27231023 2016
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
0.120 GeneticVariation disease BEFREE Furthermore, in contrast to patients with typical DSN, patients with the EGR2 R359W mutation have more respiratory compromise and cranial nerve involvement. 11523566 2001
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
0.120 GeneticVariation disease BEFREE Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation. 10762521 2000
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
0.120 Biomarker disease HPO
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2
0.120 Biomarker disease HPO
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
0.100 Biomarker disease HPO
Entrez Id: 9573
Gene Symbol: GDF3
GDF3
0.100 Biomarker disease HPO
Entrez Id: 2248
Gene Symbol: FGF3
FGF3
0.100 Biomarker disease HPO
Entrez Id: 5396
Gene Symbol: PRRX1
PRRX1
0.100 Biomarker disease HPO
Entrez Id: 4222
Gene Symbol: MEOX1
MEOX1
0.100 Biomarker disease HPO
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
0.100 Biomarker disease HPO
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
0.100 Biomarker disease HPO
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3
0.100 Biomarker disease HPO
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
0.100 Biomarker disease HPO
Entrez Id: 9180
Gene Symbol: OSMR
OSMR
0.100 Biomarker disease HPO
Entrez Id: 1351
Gene Symbol: COX8A
COX8A
0.020 GeneticVariation disease BEFREE Standard supraglottitis treatment was instigated, but on day 4 of the admission, a vesicular rash and features of cranial nerve involvement (V, VII, VIII, X) developed. 28784901 2017
Entrez Id: 1351
Gene Symbol: COX8A
COX8A
0.020 GeneticVariation disease BEFREE It is notable that this patient showed very wide range of cranial nerve involvement (III, IV, VI, VII, VIII, IX, X and XII), which have gradually deteriorated for 6 years. 19422734 2010
Entrez Id: 3362
Gene Symbol: HTR6
HTR6
0.010 Biomarker disease BEFREE The antagonist activities of lurasidone on serotonin 5‑HT7, serotonin 5‑HT2A, serotonin 5‑HT1A and serotonin 5‑HT6 were analyzed, and the preclinical therapeutic effects of lurasidone were examined in a rat model of cranial nerve involvement. 29436643 2018
Entrez Id: 3356
Gene Symbol: HTR2A
HTR2A
0.010 Biomarker disease BEFREE The antagonist activities of lurasidone on serotonin 5‑HT7, serotonin 5‑HT2A, serotonin 5‑HT1A and serotonin 5‑HT6 were analyzed, and the preclinical therapeutic effects of lurasidone were examined in a rat model of cranial nerve involvement. 29436643 2018
Entrez Id: 121512
Gene Symbol: FGD4
FGD4
0.010 GeneticVariation disease BEFREE A novel mutation in FGD4 causes Charcot-Marie-Tooth disease type 4H with cranial nerve involvement. 28847448 2017
Entrez Id: 6305
Gene Symbol: SBF1
SBF1
0.010 GeneticVariation disease BEFREE SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement. 28005197 2017