ASPH, aspartate beta-hydroxylase, 444

N. diseases: 69; N. variants: 6
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: C1832167
Disease: Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 1 3 0.720 moderate 1.000 2 3 2014 2018
CUI: C0854196
Disease: Hepatobiliary neoplasm
Hepatobiliary neoplasm 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2 0.010 None 1.000 1 2012 2012
CUI: C0423319
Disease: Atrophic iris
Atrophic iris 		disease Eye Diseases Disease or Syndrome 9 0.100 None 0
CUI: C1281300
Disease: Vascular degeneration
Vascular degeneration 		disease Cardiovascular Diseases Disease or Syndrome 10 1 0.010 None 1.000 1 2010 2010
CUI: C0005396
Disease: Bile Duct Neoplasms
Bile Duct Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 11 0.010 None 1.000 1 2006 2006
CUI: C4025579
Disease: Large beaked nose
Large beaked nose 		disease Anatomical Abnormality 13 0.100 None 0
CUI: C0267818
Disease: Bile duct proliferation
Bile duct proliferation 		disease Digestive System Diseases Disease or Syndrome 30 0.010 None 1.000 1 2000 2000
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 31 121 0.010 None 1.000 1 2012 2012
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 34 17 0.110 None 1.000 1 2014 2014
CUI: C3146257
Disease: Stage II Colon Cancer AJCC v7
Stage II Colon Cancer AJCC v7 		disease Neoplastic Process 48 3 0.010 None 1.000 1 2007 2007
CUI: C4525119
Disease: Stage II Colon Cancer AJCC v8
Stage II Colon Cancer AJCC v8 		disease Neoplastic Process 48 3 0.010 None 1.000 1 2007 2007
CUI: C0278479
Disease: Stage II Colon Cancer
Stage II Colon Cancer 		disease Digestive System Diseases; Neoplasms Neoplastic Process 49 3 0.010 None 1.000 1 2007 2007
CUI: C0206093
Disease: Neuroectodermal Tumors
Neuroectodermal Tumors 		disease Neoplasms Neoplastic Process 56 0.010 None 1.000 1 2002 2002
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		phenotype Finding 69 8 0.100 None 0
CUI: C0426415
Disease: Large nose
Large nose 		phenotype Finding 70 7 0.100 None 0
CUI: C1334953
Disease: Neuroblastic tumors
Neuroblastic tumors 		disease Neoplasms Neoplastic Process 73 2 0.010 None 1.000 1 2006 2006
CUI: C1868684
Disease: EAR, PATELLA, SHORT STATURE SYNDROME
EAR, PATELLA, SHORT STATURE SYNDROME 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 78 12 0.010 None 1.000 1 1 2015 2015
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE 		phenotype Finding 80 134 0.100 None 1.000 1 1 2017 2017
CUI: C0740277
Disease: Bile duct carcinoma
Bile duct carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 91 10 0.010 None 1.000 1 2006 2006
CUI: C3642346
Disease: Luminal B Breast Carcinoma
Luminal B Breast Carcinoma 		disease Neoplastic Process 103 7 0.010 None 1.000 1 2017 2017
CUI: C0687720
Disease: Central Diabetes Insipidus
Central Diabetes Insipidus 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 105 21 0.010 None 1.000 1 2018 2018
CUI: C0024636
Disease: Malocclusion
Malocclusion 		disease Stomatognathic Diseases Anatomical Abnormality 128 10 0.100 None 0
CUI: C0007120
Disease: Bronchioloalveolar Adenocarcinoma
Bronchioloalveolar Adenocarcinoma 		disease Neoplasms Neoplastic Process 136 5 0.010 None 1.000 1 2007 2007
CUI: C0677898
Disease: invasive cancer
invasive cancer 		phenotype Neoplasms Neoplastic Process 146 15 0.010 None 1.000 1 2007 2007
CUI: C0206663
Disease: Neuroectodermal Tumor, Primitive
Neuroectodermal Tumor, Primitive 		disease Neoplasms Neoplastic Process 184 6 0.010 None 1.000 1 2002 2002