Genes associated with “BFNS1”
58 genes foundOpen Targets: seizures, benign familial neonatal, 1
How are genes scored? (0–100 composite)
-5–15
ClinGen
0–15
HPO Freq
0–15
Open Targets
0–12
Phen2Gene
0–10
ClinVar
0–8
Constraint
0–8
Dosage
0–8
OMIM CS
0–8
PanelApp
0–5
OMIM
0–5
G2P
0–4
Breadth
Tiers:Strong Candidates (≥20)Consider (≥8)Possible (≥3)
Evidence dots:
HPOClinVarPhen2GeneOpen TargetsPanelApp
hover for detailsStrong Candidates
1 geneConsider
48 genesScore
Gene
Evidence
Freq
P/LP
OT
Description
{Nicotine addiction, susceptibility to}
16
CHRNA4Def
HPOnone
ClinVar74%
Phen2Genenone
Open Targetsnone
PanelAppnone
-
12
-
{Nicotine addiction, susceptibility to}
14GMEB2
14YTHDF1
13BFNS1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1
13
HPOnone
ClinVarnone
Phen2Genenone
Open Targetsnone
PanelAppnone
-
-
-
SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1
ATPase Na+/K+ transporting subunit alpha 3
13
ATP1A3Def
HPOnone
ClinVar20%
Phen2Genenone
Open Targets33%
PanelAppnone
-
1
0.33
ATPase Na+/K+ transporting subunit alpha 3
10ABHD16B
10ARFGAP1
10ARFRP1
10BHLHE23
10BIRC7
10COL20A1
10FNDC11
10HAR1A
10HAR1B
10HELZ2
10LIME1
10NKAIN4
10PPDPF
10PRPF6
10PTK6
10SAMD10
10SLC2A4RG
10STMN3
10TNFRSF6B
10TPD52L2
10UCKL1
10ZBTB46
10ZGPAT
10ZNF512B
9GID8
8MYT1
Possible
4 genes — click to expand
Score
Gene
Evidence
Freq
P/LP
OT
Description
cyclin dependent kinase like 5
5
CDKL5Def
HPOnone
ClinVarnone
Phen2Genenone
Open Targets0%
PanelAppnone
-
-
0.00
cyclin dependent kinase like 5
sodium voltage-gated channel alpha subunit 1
5
SCN1ADef
HPOnone
ClinVarnone
Phen2Genenone
Open Targets0%
PanelAppnone
-
-
0.00
sodium voltage-gated channel alpha subunit 1
Related phenotype searches
Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.