BMP1, bone morphogenetic protein 1, 649

N. diseases: 121; N. variants: 17
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: C3553887
Disease: OSTEOGENESIS IMPERFECTA, TYPE XIII
OSTEOGENESIS IMPERFECTA, TYPE XIII 		disease Disease or Syndrome 1 6 0.710 strong 1.000 5 6 2012 2019
CUI: C0231554
Disease: Osteoid formation disorder
Osteoid formation disorder 		disease Disease or Syndrome 1 0.010 None 1.000 1 2013 2013
CUI: C0031382
Disease: PHENCYCLIDINE/ARYLCYCLOHEXYLAMINE ABUSE
PHENCYCLIDINE/ARYLCYCLOHEXYLAMINE ABUSE 		disease Mental or Behavioral Dysfunction 3 0.010 None 1.000 1 2017 2017
CUI: C3151433
Disease: OSTEOGENESIS IMPERFECTA, TYPE XII
OSTEOGENESIS IMPERFECTA, TYPE XII 		disease Disease or Syndrome 3 5 0.010 None 1.000 1 2014 2014
CUI: C3888924
Disease: Glycogen storage disease due to acid maltase deficiency, infantile onset
Glycogen storage disease due to acid maltase deficiency, infantile onset 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 7 6 0.010 None 1.000 1 2019 2019
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 15 15 0.010 None 1.000 1 2002 2002
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome 		disease Musculoskeletal Diseases Disease or Syndrome 16 3 0.020 None 1.000 2 1993 1995
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 18 67 0.300 None 1.000 1 2012 2012
CUI: C0851886
Disease: Pneumocystis Infections
Pneumocystis Infections 		group Infections Disease or Syndrome 18 0.010 None 1.000 1 2004 2004
CUI: C0473527
Disease: Hypoalphalipoproteinemias
Hypoalphalipoproteinemias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 20 7 0.010 None 1.000 1 2018 2018
CUI: C0342883
Disease: Cholesteryl Ester Transfer Protein Deficiency
Cholesteryl Ester Transfer Protein Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 22 5 0.010 None 1.000 1 2018 2018
CUI: C0265706
Disease: Gastroschisis
Gastroschisis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 31 8 0.010 None 1.000 1 2001 2001
CUI: C0454651
Disease: Specific language impairment
Specific language impairment 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 34 9 0.010 None 1.000 1 2018 2018
CUI: C0011436
Disease: Dentinogenesis Imperfecta
Dentinogenesis Imperfecta 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 35 7 0.010 None 1.000 1 2017 2017
CUI: C0742132
Disease: cervical cancer metastasis
cervical cancer metastasis 		disease Neoplastic Process 35 0.010 None 1.000 1 2017 2017
CUI: C0152426
Disease: Craniorachischisis
Craniorachischisis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 38 0.020 None 1.000 2 2011 2012
CUI: C0020256
Disease: Congenital Hydrocephalus
Congenital Hydrocephalus 		disease Nervous System Diseases Congenital Abnormality 39 0.010 None 1.000 1 2019 2019
CUI: C0007965
Disease: Chediak-Higashi Syndrome
Chediak-Higashi Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 41 14 0.010 None 1.000 1 2019 2019
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 43 14 0.010 None 1.000 1 2000 2000
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 51 54 0.010 None 1.000 1 2017 2017
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 51 36 0.010 None 1.000 1 2011 2011
CUI: C0431128
Disease: Papillary craniopharyngioma
Papillary craniopharyngioma 		disease Neoplasms Neoplastic Process 65 2 0.040 None 1.000 4 2001 2019
CUI: C0003175
Disease: Anthrax disease
Anthrax disease 		disease Infections Disease or Syndrome 66 3 0.010 None 1.000 1 2019 2019
CUI: C3496069
Disease: cocaine use
cocaine use 		disease Mental or Behavioral Dysfunction 67 8 0.010 None 1.000 1 2017 2017
CUI: C0032326
Disease: Pneumothorax
Pneumothorax 		phenotype Respiratory Tract Diseases Disease or Syndrome 69 3 0.010 None 1.000 1 2019 2019