IHH, Indian hedgehog signaling molecule, 3549

N. diseases: 130; N. variants: 14
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: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		disease Endocrine System Diseases Disease or Syndrome 82 66 0.040 None 1.000 4 2003 2019
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.130 None 1.000 3 2004 2010
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 384 162 0.210 None 1.000 2 2000 2003
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.020 None 1.000 2 2017 2018
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.020 None 1.000 2 2010 2015
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.120 None 1.000 2 2010 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.020 None 1.000 2 2010 2017
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1348 204 0.020 None 1.000 2 2016 2019
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 86 30 0.020 None 1.000 2 2007 2013
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2969 688 0.020 None 1.000 2 2010 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: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 41 15 0.010 None 1.000 1 2017 2017
CUI: C0157946
Disease: Osteoarthrosis, localized, not specified whether primary or secondary
Osteoarthrosis, localized, not specified whether primary or secondary 		disease Musculoskeletal Diseases Disease or Syndrome 28 0.200 None 1.000 1 2014 2014
CUI: C0206637
Disease: Mesenchymal Chondrosarcoma
Mesenchymal Chondrosarcoma 		disease Neoplasms Neoplastic Process 19 0.010 None 1.000 1 2007 2007
CUI: C0333983
Disease: Hyperplastic Polyp
Hyperplastic Polyp 		disease Pathological Conditions, Signs and Symptoms Neoplastic Process 204 22 0.010 None 1.000 1 2010 2010
CUI: C0302142
Disease: Deformity
Deformity 		group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.010 None 1.000 1 2019 2019
CUI: C0269102
Disease: Endometrioma
Endometrioma 		disease Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 279 4 0.300 None 1.000 1 2011 2011
CUI: C0234362
Disease: Synkinesis
Synkinesis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 13 0.010 None 1.000 1 2017 2017
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		disease Stomatognathic Diseases Congenital Abnormality 181 19 0.010 None 1.000 1 2010 2010
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Disease or Syndrome 5 29 0.010 None 1.000 1 2006 2006
CUI: C0432282
Disease: Dysplasia epiphysealis hemimelica
Dysplasia epiphysealis hemimelica 		disease Musculoskeletal Diseases Disease or Syndrome 2 0.010 None 1.000 1 2006 2006
CUI: C4225399
Disease: SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES 		disease Disease or Syndrome 3 6 0.010 None 1.000 1 2018 2018
CUI: C3266843
Disease: 47, XYY syndrome
47, XYY syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 9 0.010 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: C1863307
Disease: Acropectorovertebral Dysplasia, F-Form
Acropectorovertebral Dysplasia, F-Form 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 0.300 strong 1.000 1 2015 2015