SHH, sonic hedgehog signaling molecule, 6469

N. diseases: 303; N. variants: 44
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: C0025149
Disease: Medulloblastoma
Medulloblastoma 		disease Neoplasms Neoplastic Process 862 115 0.100 None 0.973 75 2000 2019
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		disease Neoplasms Neoplastic Process 771 25 0.100 None 0.982 56 2000 2019
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		disease Neoplasms Neoplastic Process 762 24 0.100 None 0.982 56 2000 2019
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 109 45 0.700 None 1.000 43 22 1994 2018
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 37 0.900 None 1.000 20 35 1995 2013
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2667 277 0.060 None 1.000 6 2006 2020
CUI: C1840235
Disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 20 3 0.720 strong 1.000 6 3 2001 2007
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		disease Neoplasms Neoplastic Process 557 91 0.060 None 1.000 6 2 1997 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.050 None 1.000 5 2010 2020
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 188 43 0.340 limited 1.000 5 1998 2017
CUI: C1868114
Disease: POLYDACTYLY, PREAXIAL II (disorder)
POLYDACTYLY, PREAXIAL II (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 4 10 0.510 strong 1.000 5 2003 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.040 None 1.000 4 2003 2018
CUI: C0017638
Disease: Glioma
Glioma 		disease Neoplasms Neoplastic Process 3097 353 0.040 None 1.000 4 2002 2019
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 764 20 0.040 None 1.000 4 2003 2009
CUI: C0078982
Disease: Arhinencephaly
Arhinencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 35 0.300 None 1.000 4 2004 2016
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2689 322 0.040 None 1.000 4 2006 2018
CUI: C0345354
Disease: Radial polydactyly
Radial polydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 51 3 0.330 limited 1.000 4 2002 2014
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 254 56 0.040 None 1.000 4 2012 2019
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 37 2 0.500 None 1.000 4 2004 2016
CUI: C0431363
Disease: Alobar Holoprosencephaly
Alobar Holoprosencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 16 0.500 None 1.000 4 2004 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.040 None 1.000 4 2003 2018
CUI: C0751617
Disease: Semilobar Holoprosencephaly
Semilobar Holoprosencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 17 5 0.500 None 1.000 4 2004 2016
CUI: C0221023
Disease: Cyclic neutropenia
Cyclic neutropenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 52 14 0.030 None 1.000 3 2013 2019
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.030 None 1.000 3 2011 2015
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		disease Musculoskeletal Diseases Congenital Abnormality 64 27 0.030 None 1.000 3 2005 2020