PTCH1, patched 1, 5727

N. diseases: 604; N. variants: 194
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: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.300 None 1.000 2 2006 2008
CUI: C0153633
Disease: Malignant neoplasm of brain
Malignant neoplasm of brain 		disease Neoplasms; Nervous System Diseases Neoplastic Process 294 16 0.300 None 1.000 1 1998 1998
CUI: C0496899
Disease: Benign neoplasm of brain, unspecified
Benign neoplasm of brain, unspecified 		disease Neoplasms; Nervous System Diseases Neoplastic Process 41 0.300 None 1.000 1 1998 1998
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: C0334584
Disease: Spongioblastoma
Spongioblastoma 		disease Neoplasms Neoplastic Process 8 0.300 None 1.000 1 1998 1998
CUI: C1834038
Disease: Schilbach-Rott Syndrome
Schilbach-Rott Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases Disease or Syndrome 1 0.300 None 1.000 1 2019 2019
CUI: C1527390
Disease: Neoplasms, Intracranial
Neoplasms, Intracranial 		group Neoplasms; Nervous System Diseases Neoplastic Process 157 4 0.300 None 1.000 1 1998 1998
CUI: C0019693
Disease: HIV Infections
HIV Infections 		group Infections; Immune System Diseases Disease or Syndrome 807 142 0.300 None 1.000 1 2003 2003
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 295 70 0.300 None 1.000 1 2006 2006
CUI: C3711390
Disease: 9q22.3 Microdeletion
9q22.3 Microdeletion 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 1 0.300 None 1.000 1 2013 2013
CUI: C0750974
Disease: Brain Tumor, Primary
Brain Tumor, Primary 		disease Neoplasms; Nervous System Diseases Neoplastic Process 122 8 0.300 None 1.000 1 1998 1998
CUI: C0750977
Disease: Recurrent Brain Neoplasm
Recurrent Brain Neoplasm 		disease Neoplasms; Nervous System Diseases Neoplastic Process 39 0.300 None 1.000 1 1998 1998
CUI: C0750979
Disease: Primary malignant neoplasm of brain
Primary malignant neoplasm of brain 		disease Neoplasms; Nervous System Diseases Neoplastic Process 41 0.300 None 1.000 1 1998 1998
CUI: C3151617
Disease: ANTERIOR SEGMENT DYSGENESIS 7
ANTERIOR SEGMENT DYSGENESIS 7 		disease Disease or Syndrome 3 4 0.300 strong 1.000 1 2016 2016
CUI: C0751675
Disease: Cerebral Primitive Neuroectodermal Tumor
Cerebral Primitive Neuroectodermal Tumor 		disease Neoplasms Neoplastic Process 9 0.300 None 1.000 1 1998 1998
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: C0334596
Disease: Medulloepithelioma
Medulloepithelioma 		disease Neoplasms Neoplastic Process 13 0.300 None 1.000 1 1998 1998
CUI: C0700367
Disease: Ependymoblastoma
Ependymoblastoma 		disease Neoplasms Neoplastic Process 19 0.300 None 1.000 1 1998 1998
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 12 22 0.300 None 1.000 1 2008 2008
CUI: C4505456
Disease: HIV Coinfection
HIV Coinfection 		disease Infections; Immune System Diseases Disease or Syndrome 129 3 0.300 None 1.000 1 2003 2003
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 37 2 0.300 None 0
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.200 None 0.971 174 1989 2019
CUI: C1334410
Disease: Localized Primitive Neuroectodermal Tumor
Localized Primitive Neuroectodermal Tumor 		disease Neoplasms Neoplastic Process 4 0.200 None 1.000 6 2002 2010
CUI: C0038525
Disease: Subarachnoid Hemorrhage
Subarachnoid Hemorrhage 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 501 26 0.200 None 1.000 1 2013 2013
CUI: C1368295
Disease: Malignant basal cell tumor
Malignant basal cell tumor 		disease Neoplasms Neoplastic Process 1 0.200 None 1.000 1 1999 1999