ZIC2, Zic family member 2, 7546

N. diseases: 125; N. variants: 18
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
0.100 Biomarker disease HPO
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris
0.100 Biomarker disease HPO
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly
0.100 Biomarker disease HPO
CUI: C0266174
Disease: Duodenal atresia
Duodenal atresia
0.100 Biomarker disease HPO
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia
0.100 Biomarker disease HPO
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis
0.100 Biomarker disease HPO
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris
0.100 Biomarker disease HPO
CUI: C0266667
Disease: Cyclocephaly
Cyclocephaly
0.100 Biomarker disease HPO
CUI: C0349588
Disease: Short stature
Short stature
0.100 Biomarker phenotype HPO
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure
0.100 Biomarker phenotype HPO
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 Biomarker phenotype HPO
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished
0.100 Biomarker phenotype HPO
CUI: C0431447
Disease: Synophrys
Synophrys
0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.100 Biomarker disease HPO
Congenital absence of kidneys syndrome
0.100 Biomarker disease HPO
CUI: C1834877
Disease: HOLOPROSENCEPHALY 2 (disorder)
HOLOPROSENCEPHALY 2 (disorder)
0.100 CausalMutation disease CLINVAR
CUI: C1839758
Disease: Narrow forehead
Narrow forehead
0.100 Biomarker phenotype HPO
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion
0.100 Biomarker phenotype HPO
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
0.100 Biomarker phenotype HPO
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
0.100 Biomarker disease HPO
CUI: C1840238
Disease: Midnasal stenosis
Midnasal stenosis
0.100 Biomarker phenotype HPO
CUI: C1840528
Disease: HOLOPROSENCEPHALY 4 (disorder)
HOLOPROSENCEPHALY 4 (disorder)
0.100 CausalMutation disease CLINVAR
CUI: C1849089
Disease: Broad forehead
Broad forehead
0.100 Biomarker phenotype HPO
CUI: C1854114
Disease: Short nose
Short nose
0.100 Biomarker phenotype HPO
CUI: C1861324
Disease: Short philtrum
Short philtrum
0.100 Biomarker phenotype HPO