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: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype Anatomical Abnormality 56 29 0.100 None 1.000 2 2 2001 2003
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		phenotype Laboratory Procedure 717 1599 0.100 None 1.000 1 1 2019 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2015 2015
CUI: C1397307
Disease: Cardiac fibrosis
Cardiac fibrosis 		disease Disease or Syndrome 297 3 0.010 None 1.000 1 2015 2015
CUI: C1861502
Disease: COLCHICINE RESISTANCE
COLCHICINE RESISTANCE 		phenotype Disease or Syndrome 13 3 0.010 None 1.000 1 1998 1998
CUI: C3888506
Disease: LDLR mutation
LDLR mutation 		disease Congenital Abnormality 10 21 0.010 None 1.000 1 2 2010 2010
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin 		phenotype Finding 50 11 0.100 None 0
CUI: C0241148
Disease: Cutaneous plaque
Cutaneous plaque 		phenotype Finding 19 107 0.100 None 0 107
CUI: C0333440
Disease: Hyaline body
Hyaline body 		disease Anatomical Abnormality 14 0.100 None 0
CUI: C0375206
Disease: Hemiplegia/hemiparesis
Hemiplegia/hemiparesis 		disease Disease or Syndrome 112 2 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0 2
CUI: C1260959
Disease: Drusen
Drusen 		disease Disease or Syndrome 57 18 0.100 None 0
CUI: C1397139
Disease: Calcification of falx cerebri
Calcification of falx cerebri 		disease Disease or Syndrome 6 0.100 None 0
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold 		phenotype Finding 58 4 0.100 None 0
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		phenotype Finding 129 21 0.100 None 0
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule 		phenotype Finding 59 2 0.100 None 0
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		phenotype Anatomical Abnormality 46 11 0.100 None 0
CUI: C1867453
Disease: Peau d'orange retinal changes
Peau d'orange retinal changes 		phenotype Finding 1 16 0.100 None 0 16
CUI: C1962966
Disease: Retinopathy, CTCAE
Retinopathy, CTCAE 		phenotype Finding 108 0.100 None 0
CUI: C2033396
Disease: Yellow papule
Yellow papule 		phenotype Finding 1 0.100 None 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		phenotype Finding 181 12 0.100 None 0
CUI: C4021797
Disease: Abnormality of the thorax
Abnormality of the thorax 		disease Anatomical Abnormality 40 5 0.100 None 0
CUI: C4022001
Disease: Abnormality of the cerebral vasculature
Abnormality of the cerebral vasculature 		disease Anatomical Abnormality 18 0.100 None 0