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.
EAR, PATELLA, SHORT STATURE SYNDROME
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 78 12 0.650 None 1.000 9 1 2011 2017
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: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.450 None 1.000 6 2011 2017
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.420 None 1.000 3 2011 2015
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Congenital Abnormality 137 13 0.400 strong 1.000 1 1996 1996
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1037 21 0.400 None 1.000 1 2011 2011
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 56 3 0.310 strong 1.000 1 2011 2011
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.300 None 1.000 1 2017 2017
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 366 47 0.300 strong 1.000 1 2011 2011
CUI: C3853041
Disease: Severe Congenital Microcephaly
Severe Congenital Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome; Congenital Abnormality 35 0.300 None 1.000 1 2011 2011
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 40 1 0.300 None 1.000 1 2011 2011
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs
disease Anatomical Abnormality 69 5 0.100 None 0
CUI: C1843108
Disease: Short palm
Short palm
phenotype Finding 110 13 0.100 None 0
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype Finding 129 21 0.100 None 0
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border
phenotype Finding 95 15 0.100 None 0
CUI: C1844527
Disease: Clitoral hypoplasia
Clitoral hypoplasia
phenotype Finding 30 0.100 None 0
CUI: C1833144
Disease: Slender long bone
Slender long bone
phenotype Finding 35 5 0.100 None 0
CUI: C1849295
Disease: Hypoplastic labia minora
Hypoplastic labia minora
phenotype Finding 30 1 0.100 None 0
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion
phenotype Finding 145 10 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0566899
Disease: Small labia majora
Small labia majora
phenotype Finding 35 3 0.100 None 0
CUI: C0575802
Disease: Small hand
Small hand
phenotype Finding 108 31 0.100 None 0
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity
disease Musculoskeletal Diseases Anatomical Abnormality 117 5 0.100 None 0
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 123 10 0.100 None 0
CUI: C0685776
Disease: Congenital absence of mandible
Congenital absence of mandible
disease Congenital Abnormality 14 0.100 None 0