ROGDI, rogdi atypical leucine zipper, 79641

N. diseases: 61; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 GeneticVariation group GWASCAT Cancer risk susceptibility loci in a Swedish population. 29299148 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group HPO
CUI: C1856932
Disease: Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth)
Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth) 		0.300 Biomarker phenotype GENOMICS_ENGLAND Seizures, enamel defects and psychomotor developmental delay: The first patient with Kohlschütter-Tönz syndrome caused by a ROGDI-gene deletion. 28651123 2017
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 CausalMutation phenotype CLINVAR
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 CausalMutation phenotype CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		0.100 Biomarker phenotype HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 CausalMutation phenotype CLINVAR
CUI: C0575802
Disease: Small hand
Small hand 		0.100 CausalMutation phenotype CLINVAR
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		0.100 Biomarker phenotype HPO
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		0.100 Biomarker phenotype HPO
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.100 CausalMutation phenotype CLINVAR
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		0.100 CausalMutation phenotype CLINVAR
CUI: C1843108
Disease: Short palm
Short palm 		0.100 CausalMutation phenotype CLINVAR
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.100 CausalMutation phenotype CLINVAR
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 CausalMutation phenotype CLINVAR
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.100 CausalMutation phenotype CLINVAR
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		0.100 CausalMutation phenotype CLINVAR
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		0.100 CausalMutation phenotype CLINVAR
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.100 CausalMutation phenotype CLINVAR
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		0.100 Biomarker phenotype HPO
CUI: C1863008
Disease: Yellow-brown discoloration of the teeth
Yellow-brown discoloration of the teeth 		0.100 Biomarker phenotype HPO