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: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Neoplastic Process 74 124 1.000 definitive 0.994 170 109 1960 2020
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease Neoplasms Neoplastic Process 862 115 0.900 None 0.985 66 4 1997 2020
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 7 0.710 None 1.000 6 7 1996 2016
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma
disease Neoplasms Neoplastic Process 108 109 0.600 None 1.000 17 1999 2008
CUI: C0206663
Disease: Neuroectodermal Tumor, Primitive
Neuroectodermal Tumor, Primitive
disease Neoplasms Neoplastic Process 184 6 0.520 None 1.000 9 1997 2010
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
disease Neoplasms Neoplastic Process 557 91 0.500 None 0.942 103 6 1994 2020
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 565 20 0.500 None 1.000 11 2000 2019
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1
disease Finding 3 3 0.500 None 1.000 2 1 1996 1998
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 109 45 0.460 strong 1.000 6 1 2002 2019
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 255 282 0.420 None 1.000 4 1 2006 2018
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
disease Neoplasms Neoplastic Process 771 25 0.400 None 1.000 49 2 1999 2020
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma
disease Neoplasms Neoplastic Process 762 24 0.400 None 1.000 48 2 1999 2020
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.400 None 1.000 2 1 2006 2017
CUI: C0751617
Disease: Semilobar Holoprosencephaly
Semilobar Holoprosencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 17 5 0.400 None 0
CUI: C0431363
Disease: Alobar Holoprosencephaly
Alobar Holoprosencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 16 0.400 None 0
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
disease Neoplasms Neoplastic Process 2507 257 0.380 None 1.000 8 2 1997 2019
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2667 277 0.350 None 1.000 6 2006 2019
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 508 38 0.330 None 0.750 4 1998 2018
CUI: C0751291
Disease: Desmoplastic Medulloblastoma
Desmoplastic Medulloblastoma
disease Neoplasms Neoplastic Process 54 1 0.320 None 1.000 5 2006 2009
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 363 9 0.320 None 0.667 3 1998 2008
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 764 20 0.320 None 1.000 3 2009 2012
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
group Neoplasms; Nervous System Diseases Neoplastic Process 1018 204 0.310 None 1.000 2 1998 1998
CUI: C0205833
Disease: Medullomyoblastoma
Medullomyoblastoma
disease Neoplasms Neoplastic Process 43 0.300 None 1.000 3 2008 2009
CUI: C1368275
Disease: Pigmented Basal Cell Carcinoma
Pigmented Basal Cell Carcinoma
disease Neoplasms Neoplastic Process 28 0.300 None 1.000 3 1998 2016
CUI: C1275668
Disease: Melanotic medulloblastoma
Melanotic medulloblastoma
disease Neoplasms Neoplastic Process 43 0.300 None 1.000 3 2008 2009