Genes associated with “MRXHF1”
20 genes foundOpen Targets: intellectual disability-hypotonic facies syndrome, X-linked, 1123 ClinVar P/LP variants
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
3 genesScore
Gene
Evidence
Freq
P/LP
OT
Description
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1
18
HUWE1Def
HPOnone
ClinVar20%
Phen2Genenone
Open Targets12%
PanelAppnone
-
1
0.12
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1
13MRXHF1
INTELLECTUAL DISABILITY-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1
13
HPOnone
ClinVarnone
Phen2Genenone
Open Targetsnone
PanelAppnone
-
-
-
INTELLECTUAL DISABILITY-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1
Possible
9 genes — click to expand
Score
Gene
Evidence
Freq
P/LP
OT
Description
glutamate ionotropic receptor AMPA type subunit 3
7
GRIA3Def
HPOnone
ClinVarnone
Phen2Genenone
Open Targets1%
PanelAppnone
-
-
0.01
glutamate ionotropic receptor AMPA type subunit 3
tumor protein p53
SNF2 related chromatin remodeling ATPase 1
5
SMARCA1Lim
HPOnone
ClinVarnone
Phen2Genenone
Open Targets1%
PanelAppnone
-
-
0.01
SNF2 related chromatin remodeling ATPase 1
TNF superfamily member 13b
HRas proto-oncogene, GTPase
3
HPOnone
ClinVarnone
Phen2Genenone
Open Targets0%
PanelAppnone
-
-
0.00
HRas proto-oncogene, GTPase
hemoglobin subunit alpha 1
hemoglobin subunit alpha 2
KRAS proto-oncogene, GTPase
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.