Source: INFERRED

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C1843392
Disease: Death in childhood
Death in childhood 		phenotype 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C1849538
Disease: Delayed eruption of primary teeth
Delayed eruption of primary teeth 		phenotype 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C1849953
Disease: Square pelvis bone
Square pelvis bone 		disease 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		disease 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C1851430
Disease: Subcortical white matter calcifications
Subcortical white matter calcifications 		phenotype 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C1851431
Disease: Cerebellar calcifications
Cerebellar calcifications 		phenotype 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip 		phenotype 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C1855514
Disease: Severe failure to thrive
Severe failure to thrive 		phenotype 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C1389280
Disease: Basal ganglia calcification
Basal ganglia calcification 		phenotype 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		disease 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C0521525
Disease: Short neck
Short neck 		phenotype 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential 		phenotype 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential 		phenotype 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		disease 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C0578038
Disease: Thin lips
Thin lips 		phenotype 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		disease 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		group 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		disease 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C1857949
Disease: Prominent metopic ridge
Prominent metopic ridge 		phenotype 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		phenotype 0.100 None 0 0