Genes associated with “MACID”
24 genes foundOpen Targets: macrocephaly, acquired, with impaired intellectual development
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
7 genesScore
Gene
Evidence
Freq
P/LP
OT
Description
13MACID
MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT; MACID
13
HPOnone
ClinVarnone
Phen2Genenone
Open Targetsnone
PanelAppnone
-
-
-
MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT; MACID
IQ motif and Sec7 domain ArfGEF 2
10
IQSEC2Def
HPOnone
ClinVarnone
Phen2Genenone
Open Targets3%
PanelAppnone
-
-
0.03
IQ motif and Sec7 domain ArfGEF 2
tubulin beta 2B class IIb
aristaless related homeobox
chromodomain helicase DNA binding protein 7
10
CHD7Def
HPOnone
ClinVarnone
Phen2Genenone
Open Targets3%
PanelAppnone
-
-
0.03
chromodomain helicase DNA binding protein 7
Possible
13 genes — click to expand
Score
Gene
Evidence
Freq
P/LP
OT
Description
7ZIC2
Zic family zinc finger 2
microtubule associated protein 1B
6
MAP1BStr
HPOnone
ClinVarnone
Phen2Genenone
Open Targets3%
PanelAppnone
-
-
0.03
microtubule associated protein 1B
6CER1
DS cell adhesion molecule
kaptin, actin binding protein
4
KPTNDef
HPOnone
ClinVarnone
Phen2Genenone
Open Targets4%
PanelAppnone
-
-
0.04
kaptin, actin binding protein
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.