PTCH2, patched 2, 8643

N. diseases: 114; N. variants: 4
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: C3809192
Disease: PULMONARY HYPERTENSION, PRIMARY, 3
PULMONARY HYPERTENSION, PRIMARY, 3 		disease Disease or Syndrome 2 4 0.010 None 1.000 1 2019 2019
CUI: C1862304
Disease: Hamartomatous polyp of stomach
Hamartomatous polyp of stomach 		phenotype Digestive System Diseases; Neoplasms Disease or Syndrome 3 0.100 None 0
CUI: C1866959
Disease: Sella Turcica, Bridged
Sella Turcica, Bridged 		disease Nervous System Diseases; Endocrine System Diseases Anatomical Abnormality 3 0.100 None 0
CUI: C4025374
Disease: Irregular ossification of hand bones
Irregular ossification of hand bones 		phenotype Finding 3 0.100 None 0
CUI: C0155285
Disease: Orbital cyst
Orbital cyst 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Eye Diseases Disease or Syndrome 4 0.100 None 0
CUI: C0423776
Disease: Palmar pit
Palmar pit 		phenotype Finding 4 0.100 None 0
CUI: C1096654
Disease: Cardiac fibroma
Cardiac fibroma 		disease Neoplasms; Cardiovascular Diseases Neoplastic Process 4 0.100 None 0
CUI: C1852301
Disease: Plantar pits
Plantar pits 		phenotype Finding 4 0.100 None 0
CUI: C3838465
Disease: BASAL CELL CARCINOMA, SOMATIC
BASAL CELL CARCINOMA, SOMATIC 		disease Neoplastic Process 5 7 0.400 moderate 0 1
CUI: C0149951
Disease: Ovarian Fibromata
Ovarian Fibromata 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 6 0.100 None 0
CUI: C1332852
Disease: Cardiac rhabdomyoma
Cardiac rhabdomyoma 		disease Neoplasms; Cardiovascular Diseases Neoplastic Process 6 1 0.100 None 0
CUI: C1397139
Disease: Calcification of falx cerebri
Calcification of falx cerebri 		disease Disease or Syndrome 6 0.100 None 0
CUI: C1857126
Disease: Parietal bossing
Parietal bossing 		phenotype Finding 7 1 0.100 None 0
CUI: C1862313
Disease: Short distal phalanx of the thumb
Short distal phalanx of the thumb 		phenotype Finding 7 0.100 None 0
CUI: C1695776
Disease: Vertebral wedging
Vertebral wedging 		disease Anatomical Abnormality 8 0.100 None 0
CUI: C4721788
Disease: Bifid ribs
Bifid ribs 		phenotype Anatomical Abnormality 9 1 0.100 None 0
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 2 2008 2013
CUI: C0345397
Disease: Accessory rib
Accessory rib 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 12 0.100 None 0
CUI: C1840309
Disease: Short 4th metacarpal
Short 4th metacarpal 		phenotype Finding 14 1 0.100 None 0
CUI: C1859680
Disease: Broad face
Broad face 		phenotype Finding 14 0.100 None 0
CUI: C4021655
Disease: Abnormality of the sense of smell
Abnormality of the sense of smell 		phenotype Finding 14 1 0.100 None 0
CUI: C0037293
Disease: Skin tag
Skin tag 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 17 1 0.100 None 0
CUI: C0345996
Disease: Milium Cyst
Milium Cyst 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Skin and Connective Tissue Diseases Anatomical Abnormality 20 0.100 None 0
CUI: C0266623
Disease: Congenital anomaly of neck
Congenital anomaly of neck 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 26 0.100 None 0
CUI: C1368275
Disease: Pigmented Basal Cell Carcinoma
Pigmented Basal Cell Carcinoma 		disease Neoplasms Neoplastic Process 28 0.300 None 0