ABCC6, ATP binding cassette subfamily C member 6, 368

N. diseases: 181; N. variants: 320
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: C3276161
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 		disease Disease or Syndrome 1 16 0.600 None 1.000 2 16 2000 2012
CUI: C0264955
Disease: Idiopathic arterial calcification of infancy
Idiopathic arterial calcification of infancy 		disease Nutritional and Metabolic Diseases; Cardiovascular Diseases Disease or Syndrome 1 0.300 None 1.000 1 2012 2012
CUI: C1867451
Disease: Pseudoxanthoma Elasticum, Heterozygous
Pseudoxanthoma Elasticum, Heterozygous 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 1 1 0.010 None 1.000 1 1 2019 2019
CUI: C1867453
Disease: Peau d'orange retinal changes
Peau d'orange retinal changes 		phenotype Finding 1 16 0.100 None 0 16
CUI: C2033396
Disease: Yellow papule
Yellow papule 		phenotype Finding 1 0.100 None 0
CUI: C4022895
Disease: Medial calcification of medium-sized arteries
Medial calcification of medium-sized arteries 		phenotype Pathologic Function 1 0.100 None 0
CUI: C4531299
Disease: Premature occlusive vascular stenosis
Premature occlusive vascular stenosis 		disease Disease or Syndrome 1 0.100 None 0
CUI: C1168153
Disease: Arterial calcification
Arterial calcification 		phenotype Nutritional and Metabolic Diseases Pathologic Function 2 1 0.100 None 0 1
CUI: C4025265
Disease: Medial calcification of large arteries
Medial calcification of large arteries 		phenotype Pathologic Function 2 1 0.100 None 0 1
CUI: C1867450
Disease: Pseudoxanthoma Elasticum, Incomplete
Pseudoxanthoma Elasticum, Incomplete 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 3 6 0.600 None 1.000 14 6 1978 2016
CUI: C1859727
Disease: Arterial calcification of infancy
Arterial calcification of infancy 		disease Nutritional and Metabolic Diseases Disease or Syndrome 3 2 0.580 None 1.000 9 2011 2020
CUI: C0376359
Disease: Gronblad-Strandberg Syndrome
Gronblad-Strandberg Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 3 0.300 None 1.000 8 2002 2015
CUI: C1859372
Disease: Calcification of Joints and Arteries
Calcification of Joints and Arteries 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 3 3 0.010 None 1.000 1 2011 2011
CUI: C0425791
Disease: Peau d'orange surface of breast
Peau d'orange surface of breast 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Sign or Symptom 3 0.100 None 0
CUI: C4024736
Disease: Abnormally lax or hyperextensible skin
Abnormally lax or hyperextensible skin 		phenotype Anatomical Abnormality 3 53 0.100 None 0 49
CUI: C0267602
Disease: Descending perineum syndrome
Descending perineum syndrome 		disease Digestive System Diseases Disease or Syndrome 4 0.010 None < 0.001 1 2019 2019
CUI: C1688637
Disease: Intraoperative floppy iris syndrome
Intraoperative floppy iris syndrome 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome 4 0.010 None < 0.001 1 2019 2019
CUI: C0152169
Disease: Renal Colic
Renal Colic 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 5 2 0.100 None 0 2
CUI: C1397139
Disease: Calcification of falx cerebri
Calcification of falx cerebri 		disease Disease or Syndrome 6 0.100 None 0
CUI: C1849618
Disease: Accelerated atherosclerosis
Accelerated atherosclerosis 		phenotype Cardiovascular Diseases Finding 7 0.100 None 0
CUI: C3888506
Disease: LDLR mutation
LDLR mutation 		disease Congenital Abnormality 10 21 0.010 None 1.000 1 2 2010 2010
CUI: C0151854
Disease: Abnormal platelets
Abnormal platelets 		phenotype Hemic and Lymphatic Diseases Cell or Molecular Dysfunction 11 0.100 None 0
CUI: C0522055
Disease: Electrocardiogram abnormal
Electrocardiogram abnormal 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 11 54 0.100 None 0 50
CUI: C0030793
Disease: Pelvic Neoplasms
Pelvic Neoplasms 		group Neoplasms Neoplastic Process 12 0.010 None 1.000 1 2018 2018
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		disease Eye Diseases Disease or Syndrome 13 90 0.110 None 1.000 1 89 2009 2009