ORC1, origin recognition complex subunit 1, 4998

N. diseases: 103; N. variants: 8
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C4552001
Disease: MEIER-GORLIN SYNDROME 1
MEIER-GORLIN SYNDROME 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 7 0.600 None 1.000 8 7 1996 2015
CUI: C4021589
Disease: Absent glenoid fossa
Absent glenoid fossa 		phenotype Finding 1 0.100 None 0
CUI: C1855177
Disease: Flat glenoid fossa
Flat glenoid fossa 		phenotype Finding 2 0.100 None 0
CUI: C4025857
Disease: Incomplete partition of the cochlea type II
Incomplete partition of the cochlea type II 		phenotype Finding 4 1 0.100 None 0
CUI: C1857074
Disease: Absent sternal ossification
Absent sternal ossification 		phenotype Finding 5 0.100 None 0
CUI: C0268540
Disease: HHH syndrome
HHH syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 8 21 0.010 None 1.000 1 2003 2003
CUI: C0423807
Disease: Overcurvature of nail
Overcurvature of nail 		phenotype Finding 9 0.100 None 0
CUI: C4021174
Disease: Microtia, third degree
Microtia, third degree 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Anatomical Abnormality 10 0.100 None 0
CUI: C0702139
Disease: Congenital absence of external ear
Congenital absence of external ear 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Congenital Abnormality 11 0.100 None 0
CUI: C1859455
Disease: Small anterior fontanelle
Small anterior fontanelle 		phenotype Finding 11 4 0.100 None 0
CUI: C0426805
Disease: Hooked clavicle
Hooked clavicle 		phenotype Finding 14 0.100 None 0
CUI: C0685776
Disease: Congenital absence of mandible
Congenital absence of mandible 		disease Congenital Abnormality 14 0.100 None 0
CUI: C1969653
Disease: MUNGAN SYNDROME
MUNGAN SYNDROME 		disease Digestive System Diseases; Neoplasms Disease or Syndrome 15 6 0.070 None 0.857 7 1 2012 2019
CUI: C0266009
Disease: Congenital absence of breast
Congenital absence of breast 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 15 0.100 None 0
CUI: C1868578
Disease: Patellar aplasia
Patellar aplasia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 17 3 0.100 None 0
CUI: C1857665
Disease: Aplastic clavicle
Aplastic clavicle 		phenotype Congenital Abnormality 19 0.100 None 0
CUI: C1858539
Disease: Shawl scrotum
Shawl scrotum 		phenotype Congenital Abnormality 19 2 0.100 None 0
CUI: C1868577
Disease: Patella aplasia-hypoplasia
Patella aplasia-hypoplasia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 20 1 0.100 None 0
CUI: C4021254
Disease: Cutaneous finger syndactyly
Cutaneous finger syndactyly 		disease Congenital Abnormality 20 1 0.100 None 0
CUI: C1855650
Disease: Birth length less than 3rd percentile
Birth length less than 3rd percentile 		phenotype Finding 21 13 0.100 None 0
CUI: C0029421
Disease: Osteochondritis Dissecans
Osteochondritis Dissecans 		disease Musculoskeletal Diseases Disease or Syndrome 22 2 0.100 None 0
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Congenital Abnormality 25 9 0.010 None 1.000 1 2012 2012
CUI: C0006157
Disease: Breech Presentation
Breech Presentation 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 30 11 0.100 None 0
CUI: C0014588
Disease: Epispadias
Epispadias 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 30 0.100 None 0
CUI: C1844527
Disease: Clitoral hypoplasia
Clitoral hypoplasia 		phenotype Finding 30 0.100 None 0