POLR1D, RNA polymerase I and III subunit D, 51082

N. diseases: 84; N. variants: 18
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150983
Disease: TREACHER COLLINS SYNDROME 2
TREACHER COLLINS SYNDROME 2 		0.700 CausalMutation disease CLINVAR
CUI: C3150983
Disease: TREACHER COLLINS SYNDROME 2
TREACHER COLLINS SYNDROME 2 		0.700 Biomarker disease CTD_human
CUI: C3150983
Disease: TREACHER COLLINS SYNDROME 2
TREACHER COLLINS SYNDROME 2 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3150983
Disease: TREACHER COLLINS SYNDROME 2
TREACHER COLLINS SYNDROME 2 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.400 Biomarker disease HPO
CUI: C0005747
Disease: Blepharospasm
Blepharospasm 		0.100 Biomarker disease HPO
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		0.100 Biomarker disease HPO
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.100 Biomarker disease HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 Biomarker disease HPO
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.100 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.100 Biomarker disease HPO
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		0.100 Biomarker disease HPO
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		0.100 Biomarker disease HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO
CUI: C0024433
Disease: Macrostomia
Macrostomia 		0.100 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.100 Biomarker disease HPO
CUI: C0026034
Disease: Microstomia
Microstomia 		0.100 Biomarker disease HPO
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.100 Biomarker group HPO
CUI: C0034895
Disease: Rectovaginal Fistula
Rectovaginal Fistula 		0.100 Biomarker disease HPO
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		0.100 Biomarker phenotype HPO
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO