BGLAP, bone gamma-carboxyglutamate protein, 632

N. diseases: 274; N. variants: 2
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: C0853241
Disease: Exacerbation of anxiety
Exacerbation of anxiety 		phenotype Sign or Symptom 1 0.010 None 1.000 1 2018 2018
CUI: C0342635
Disease: Hungry bone syndrome
Hungry bone syndrome 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 2 0.010 None 1.000 1 2020 2020
CUI: C0348454
Disease: Other hypoparathyroidism
Other hypoparathyroidism 		disease Endocrine System Diseases Disease or Syndrome 3 0.200 None 1.000 1 1990 1990
CUI: C1265884
Disease: Eggshell calcium deposition
Eggshell calcium deposition 		disease Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C1853271
Disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY
HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 3 19 0.010 None 1.000 1 2007 2007
CUI: C0265374
Disease: Warfarin syndrome
Warfarin syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 4 0.010 None 1.000 1 1987 1987
CUI: C2874202
Disease: Constitutional delay of puberty
Constitutional delay of puberty 		disease Disease or Syndrome 4 3 0.010 None 1.000 1 2017 2017
CUI: C3888204
Disease: ACTN3 DEFICIENCY
ACTN3 DEFICIENCY 		disease Disease or Syndrome 4 1 0.010 None 1.000 1 2017 2017
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		disease Disease or Syndrome 5 22 0.200 None 1.000 1 1990 1990
CUI: C4552089
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1, WITH BARTTER SYNDROME
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1, WITH BARTTER SYNDROME 		disease Disease or Syndrome 5 0.200 None 1.000 1 1990 1990
CUI: C0033587
Disease: Prosthesis Loosening
Prosthesis Loosening 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 6 0.010 None 1.000 1 2009 2009
CUI: C1844853
Disease: Brachytelephalangic Chondrodysplasia Punctata
Brachytelephalangic Chondrodysplasia Punctata 		disease Disease or Syndrome 7 11 0.010 None 1.000 1 1989 1989
CUI: C1135188
Disease: Critical illness myopathy
Critical illness myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 8 0.010 None < 0.001 1 2019 2019
CUI: C3554225
Disease: LEPTIN RECEPTOR DEFICIENCY
LEPTIN RECEPTOR DEFICIENCY 		disease Disease or Syndrome 9 3 0.010 None 1.000 1 2017 2017
CUI: C0158447
Disease: Idiopathic osteoporosis
Idiopathic osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 10 0.010 None 1.000 1 2010 2010
CUI: C0027122
Disease: Myositis Ossificans
Myositis Ossificans 		disease Musculoskeletal Diseases Disease or Syndrome 12 0.010 None 1.000 1 1999 1999
CUI: C0029877
Disease: Ear Inflammation
Ear Inflammation 		disease Otorhinolaryngologic Diseases Disease or Syndrome 12 2 0.010 None < 0.001 1 2001 2001
CUI: C4272579
Disease: Autosomal Dominant Osteopetrosis
Autosomal Dominant Osteopetrosis 		disease Musculoskeletal Diseases Disease or Syndrome 14 1 0.020 None 1.000 2 1994 2000
CUI: C0029411
Disease: Osteoarthropathy, Primary Hypertrophic
Osteoarthropathy, Primary Hypertrophic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 14 2 0.010 None 1.000 1 1988 1988
CUI: C3839589
Disease: Secondary osteoporosis
Secondary osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 15 0.010 None 1.000 1 2017 2017
CUI: C0013393
Disease: Dysostoses
Dysostoses 		disease Musculoskeletal Diseases Disease or Syndrome 16 1 0.010 None 1.000 1 2018 2018
CUI: C0035086
Disease: Renal Osteodystrophy
Renal Osteodystrophy 		disease Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 16 0.010 None 1.000 1 2018 2018
CUI: C0155502
Disease: Benign Paroxysmal Positional Vertigo
Benign Paroxysmal Positional Vertigo 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 16 1 0.010 None 1.000 1 2017 2017
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 16 42 0.010 None 1.000 1 1993 1993
CUI: C0679407
Disease: Gastrointestinal dysfunction
Gastrointestinal dysfunction 		phenotype Digestive System Diseases Disease or Syndrome 16 6 0.010 None 1.000 1 2019 2019