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: 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: C1334963
Disease: Nevoid Basal Cell Carcinoma Syndrome Associated Medulloblastoma
Nevoid Basal Cell Carcinoma Syndrome Associated Medulloblastoma 		disease Neoplasms Neoplastic Process 1 0.010 None 1.000 1 1999 1999
CUI: C1368295
Disease: Malignant basal cell tumor
Malignant basal cell tumor 		disease Neoplasms Neoplastic Process 1 0.200 None 1.000 1 1999 1999
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: 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: C4476818
Disease: Nevus sebaceus
Nevus sebaceus 		disease Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2007 2007
CUI: C1834930
Disease: Fusion of the left and right thalami
Fusion of the left and right thalami 		phenotype Finding 1 0.100 None 0
CUI: C1847886
Disease: Anomalous branches of internal carotid artery
Anomalous branches of internal carotid artery 		phenotype Finding 1 1 0.100 None 0 1
CUI: C3805371
Disease: Pits of palms and soles
Pits of palms and soles 		phenotype Finding 1 2 0.100 None 0 2
CUI: C4023930
Disease: Enlarged epiphyses of the proximal phalanges of the hand
Enlarged epiphyses of the proximal phalanges of the hand 		phenotype Anatomical Abnormality 1 1 0.100 None 0 1
CUI: C4024230
Disease: Contracture of the distal interphalangeal joint of the fingers
Contracture of the distal interphalangeal joint of the fingers 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4025542
Disease: Humeral cortical thickening
Humeral cortical thickening 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4025842
Disease: Abnormal uvea morphology
Abnormal uvea morphology 		phenotype Anatomical Abnormality 1 1 0.100 None 0 1
CUI: C1862314
Disease: Basal cell nevus
Basal cell nevus 		disease Neoplasms Neoplastic Process 2 1 0.120 None 0.500 2 1 2006 2007
CUI: C0334574
Disease: Calcifying Epithelial Odontogenic Tumor
Calcifying Epithelial Odontogenic Tumor 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2 0.010 None 1.000 1 2010 2010
CUI: C1854245
Disease: Basal cell carcinoma, multiple
Basal cell carcinoma, multiple 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 2 0.010 None 1.000 1 2003 2003
CUI: C4330671
Disease: Medulloblastoma, SHH-Activated
Medulloblastoma, SHH-Activated 		disease Neoplastic Process 2 0.010 None 1.000 1 2016 2016
CUI: C1859376
Disease: Fused sternal ossification centers
Fused sternal ossification centers 		phenotype Finding 2 1 0.100 None 0 1
CUI: C4020919
Disease: Dense metaphyseal bands
Dense metaphyseal bands 		phenotype Finding 2 1 0.100 None 0 1
CUI: C4021598
Disease: Distal tibial bowing
Distal tibial bowing 		disease Anatomical Abnormality 2 1 0.100 None 0 1
CUI: C4022757
Disease: Moderate hearing impairment
Moderate hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 2 2 0.100 None 0 1
CUI: C4023330
Disease: Abnormal Descemet membrane morphology
Abnormal Descemet membrane morphology 		phenotype Anatomical Abnormality 2 1 0.100 None 0 1
CUI: C4023518
Disease: Abnormality of skin adnexa morphology
Abnormality of skin adnexa morphology 		phenotype Anatomical Abnormality 2 2 0.100 None 0 1
CUI: C0334482
Disease: Fetal rhabdomyoma
Fetal rhabdomyoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Neoplastic Process 3 0.020 None 1.000 2 2006 2013
CUI: C2751544
Disease: BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1 		disease Finding 3 3 0.500 None 1.000 2 1 1996 1998