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: C0024636
Disease: Malocclusion
Malocclusion 		disease Stomatognathic Diseases Anatomical Abnormality 128 10 0.100 None 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype Finding 391 49 0.100 None 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype Finding 271 106 0.100 None 0
CUI: C0426415
Disease: Large nose
Large nose 		phenotype Finding 70 7 0.100 None 0
CUI: C3494422
Disease: Retrognathia
Retrognathia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 191 11 0.100 None 0
CUI: C4025579
Disease: Large beaked nose
Large beaked nose 		disease Anatomical Abnormality 13 0.100 None 0
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		phenotype Finding 69 8 0.100 None 0
CUI: C0423319
Disease: Atrophic iris
Atrophic iris 		disease Eye Diseases Disease or Syndrome 9 0.100 None 0
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis 		disease Digestive System Diseases Disease or Syndrome 190 22 0.010 None 1.000 1 1999 1999
CUI: C0241910
Disease: Autoimmune Chronic Hepatitis
Autoimmune Chronic Hepatitis 		disease Digestive System Diseases; Immune System Diseases Disease or Syndrome 213 23 0.010 None 1.000 1 1999 1999
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: C1608408
Disease: Malignant transformation
Malignant transformation 		phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 2000 2000
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		disease Neoplasms Neoplastic Process 862 115 0.010 None 1.000 1 2002 2002
CUI: C0206093
Disease: Neuroectodermal Tumors
Neuroectodermal Tumors 		disease Neoplasms Neoplastic Process 56 0.010 None 1.000 1 2002 2002
CUI: C0206663
Disease: Neuroectodermal Tumor, Primitive
Neuroectodermal Tumor, Primitive 		disease Neoplasms Neoplastic Process 184 6 0.010 None 1.000 1 2002 2002
CUI: C0003130
Disease: Anoxia
Anoxia 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 287 0.010 None 1.000 1 2005 2005
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.020 None 1.000 2 2002 2006
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		disease Neoplasms Neoplastic Process 2420 231 0.020 None 1.000 2 2002 2006
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease Neoplasms Neoplastic Process 2509 386 0.020 None 1.000 2 2002 2006
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: C1334953
Disease: Neuroblastic tumors
Neuroblastic tumors 		disease Neoplasms Neoplastic Process 73 2 0.010 None 1.000 1 2006 2006
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: C0007097
Disease: Carcinoma
Carcinoma 		group Neoplasms Neoplastic Process 2462 103 0.020 None 1.000 2 2007 2007
CUI: C0007120
Disease: Bronchioloalveolar Adenocarcinoma
Bronchioloalveolar Adenocarcinoma 		disease Neoplasms Neoplastic Process 136 5 0.010 None 1.000 1 2007 2007
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 188 0.010 None 1.000 1 2007 2007