SERPINH1, serpin family H member 1, 871

N. diseases: 148; 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: C0751848
Disease: Thrombotic Infarction, Middle Cerebral Artery
Thrombotic Infarction, Middle Cerebral Artery 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 35 0.300 None 1.000 1 2002 2002
CUI: C0751849
Disease: Right Middle Cerebral Artery Infarction
Right Middle Cerebral Artery Infarction 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 35 0.300 None 1.000 1 2002 2002
CUI: C0011436
Disease: Dentinogenesis Imperfecta
Dentinogenesis Imperfecta 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 35 7 0.100 None 0
CUI: C0241703
Disease: High pitched voice
High pitched voice 		phenotype Finding 35 1 0.100 None 0
CUI: C0862196
Disease: Mycosis fungoides/Sezary syndrome NOS
Mycosis fungoides/Sezary syndrome NOS 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 36 0.010 None 1.000 1 1992 1992
CUI: C0426818
Disease: Thin rib
Thin rib 		phenotype Finding 42 1 0.100 None 0
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity 		phenotype Finding 44 6 0.100 None 0
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 49 19 0.100 None 0
CUI: C0014118
Disease: Endocarditis
Endocarditis 		disease Cardiovascular Diseases Disease or Syndrome 56 0.020 None 1.000 2 2004 2008
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 62 10 0.010 None 1.000 1 2017 2017
CUI: C1541923
Disease: Infective endocarditis
Infective endocarditis 		disease Cardiovascular Diseases Disease or Syndrome 62 9 0.010 None 1.000 1 1996 1996
CUI: C0014121
Disease: Bacterial Endocarditis
Bacterial Endocarditis 		disease Infections; Cardiovascular Diseases Disease or Syndrome 68 9 0.010 None 1.000 1 1996 1996
CUI: C0271160
Disease: Cortical cataract
Cortical cataract 		disease Eye Diseases Disease or Syndrome 69 15 0.010 None 1.000 1 2015 2015
CUI: C0542514
Disease: Blue sclera
Blue sclera 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Finding 70 13 0.100 None 0
CUI: C0005956
Disease: Bone Marrow Diseases
Bone Marrow Diseases 		group Hemic and Lymphatic Diseases Disease or Syndrome 84 3 0.020 None 1.000 2 1992 1993
CUI: C0037928
Disease: Spinal Cord Diseases
Spinal Cord Diseases 		group Nervous System Diseases Disease or Syndrome 84 3 0.020 None 1.000 2 1992 1993
CUI: C0399440
Disease: Hereditary gingival fibromatosis
Hereditary gingival fibromatosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 86 0.040 None 1.000 4 1999 2018
CUI: C0030481
Disease: Tropical Spastic Paraparesis
Tropical Spastic Paraparesis 		disease Infections; Nervous System Diseases Disease or Syndrome 88 4 0.030 None 0.667 3 1990 1993
CUI: C0079680
Disease: Lentivirus Infections
Lentivirus Infections 		group Infections Disease or Syndrome 88 0.010 None 1.000 1 2017 2017
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome; Congenital Abnormality 90 91 0.300 None 1.000 15 1 1998 2019
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		phenotype Finding 93 3 0.100 None 0
CUI: C0026946
Disease: Mycoses
Mycoses 		group Infections Disease or Syndrome 94 2 0.010 None 1.000 1 2017 2017
CUI: C0022116
Disease: Ischemia
Ischemia 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 103 0.300 None 1.000 1 2009 2009
CUI: C0025995
Disease: Micromelia
Micromelia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 104 1 0.100 None 0
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		phenotype Finding 106 20 0.100 None 0