HHAT, hedgehog acyltransferase, 55733

N. diseases: 75; N. variants: 5
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: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.100 None 0
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 255 282 0.010 None 1.000 1 2014 2014
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		disease Digestive System Diseases; Infections Disease or Syndrome 1768 347 0.010 None 1.000 1 2015 2015
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		group Digestive System Diseases; Neoplasms Neoplastic Process 538 154 0.300 None 1.000 1 2016 2016
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 74 0.300 None 1.000 1 2016 2016
CUI: C1335302
Disease: Pancreatic Ductal Adenocarcinoma
Pancreatic Ductal Adenocarcinoma 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 970 22 0.020 None 1.000 2 2014 2015
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2689 322 0.010 None 1.000 1 2015 2015
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2667 277 0.010 None 1.000 1 2015 2015
CUI: C0344539
Disease: Hypoplasia of iris
Hypoplasia of iris 		disease Eye Diseases Congenital Abnormality 19 1 0.100 None 0
CUI: C0038379
Disease: Strabismus
Strabismus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 0.100 None 0
CUI: C0017658
Disease: Glomerulonephritis
Glomerulonephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 391 7 0.010 None 1.000 1 1994 1994
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		group Immune System Diseases Disease or Syndrome 973 31 0.010 None 1.000 1 2014 2014
CUI: C0019099
Disease: Hemorrhagic Fever, Crimean
Hemorrhagic Fever, Crimean 		disease Infections Disease or Syndrome 47 9 0.010 None 1.000 1 2002 2002
CUI: C4289792
Disease: Chronic Active EBV Infection of T-and NK-Cell Type, Systemic Form
Chronic Active EBV Infection of T-and NK-Cell Type, Systemic Form 		disease Infections Disease or Syndrome 22 0.010 None 1.000 1 1996 1996
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.410 None 1.000 1 1 2013 2013
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		disease Musculoskeletal Diseases Disease or Syndrome 710 609 0.100 None 1.000 1 1 2013 2013
CUI: C0020496
Disease: Hyperostosis of skull
Hyperostosis of skull 		disease Musculoskeletal Diseases Disease or Syndrome 4 0.100 None 0
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease Neoplasms Neoplastic Process 2509 386 0.050 None 1.000 5 1995 2006
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		disease Neoplasms Neoplastic Process 2420 231 0.050 None 1.000 5 1995 2006
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.040 None 1.000 4 2014 2017
CUI: C0023269
Disease: leiomyosarcoma
leiomyosarcoma 		disease Neoplasms Neoplastic Process 213 5 0.030 None 1.000 3 1999 2012
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.030 None 1.000 3 2001 2019
CUI: C0278607
Disease: Adult Leiomyosarcoma
Adult Leiomyosarcoma 		disease Neoplasms Neoplastic Process 141 1 0.020 None 1.000 2 1999 2012
CUI: C0279986
Disease: Childhood Leiomyosarcoma
Childhood Leiomyosarcoma 		disease Neoplasms Neoplastic Process 140 1 0.020 None 1.000 2 1999 2012
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.010 None 1.000 1 2019 2019