XYLT2, xylosyltransferase 2, 64132

N. diseases: 138; N. variants: 7
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: C4225412
Disease: Spondylo-ocular syndrome
Spondylo-ocular syndrome 		disease Disease or Syndrome 24 5 0.450 None 1.000 5 3 2015 2019
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 4 1 2015 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2017 2017
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		disease Disease or Syndrome 985 56 0.010 None 1.000 1 2018 2018
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 489 64 0.100 None 0
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin 		phenotype Finding 50 11 0.100 None 0
CUI: C0333440
Disease: Hyaline body
Hyaline body 		disease Anatomical Abnormality 14 0.100 None 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		disease Congenital Abnormality 176 23 0.100 None 0
CUI: C0521525
Disease: Short neck
Short neck 		phenotype Finding 288 29 0.100 None 0
CUI: C0578038
Disease: Thin lips
Thin lips 		phenotype Finding 99 8 0.100 None 0
CUI: C1260959
Disease: Drusen
Drusen 		disease Disease or Syndrome 57 18 0.100 None 0
CUI: C1834124
Disease: Shield chest
Shield chest 		phenotype Finding 12 2 0.100 None 0 1
CUI: C1837732
Disease: Thickened helices
Thickened helices 		phenotype Finding 37 3 0.100 None 0
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule 		phenotype Finding 59 2 0.100 None 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		phenotype Finding 93 3 0.100 None 0
CUI: C1846435
Disease: Disproportionate short-trunk short stature
Disproportionate short-trunk short stature 		phenotype Finding 19 2 0.100 None 0
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		phenotype Finding 86 11 0.100 None 0
CUI: C1858091
Disease: Long fingers
Long fingers 		phenotype Finding 32 6 0.100 None 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		phenotype Finding 282 16 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0
CUI: C3150613
Disease: Long toe
Long toe 		phenotype Finding 24 8 0.100 None 0
CUI: C3279392
Disease: PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF
PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF 		disease Disease or Syndrome 1 1 0.100 None 0 1
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		phenotype Finding 181 12 0.100 None 0
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology 		group Anatomical Abnormality 29 1 0.100 None 0
CUI: C4021395
Disease: Abnormality of the antihelix
Abnormality of the antihelix 		disease Anatomical Abnormality 17 0.100 None 0