PTHLH, parathyroid hormone like hormone, 5744

N. diseases: 321; N. variants: 5
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: C0038834
Disease: Superior Vena Cava Thrombosis
Superior Vena Cava Thrombosis 		disease Cardiovascular Diseases Disease or Syndrome 1 0.300 None 1.000 1 2002 2002
CUI: C3150644
Disease: BRACHYDACTYLY, TYPE E2
BRACHYDACTYLY, TYPE E2 		disease Disease or Syndrome 1 4 0.700 None 1.000 1 4 2010 2010
CUI: C0265312
Disease: Brachydactyly syndrome type E
Brachydactyly syndrome type E 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2010 2010
CUI: C0700110
Disease: Carcinoma bone
Carcinoma bone 		disease Neoplasms; Musculoskeletal Diseases Neoplastic Process 2 0.010 None 1.000 1 2013 2013
CUI: C1266018
Disease: Hepatocellular carcinoma, scirrhous
Hepatocellular carcinoma, scirrhous 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2 0.010 None 1.000 1 1999 1999
CUI: C4024069
Disease: Aplasia/Hypoplasia of the distal phalanx of the hallux
Aplasia/Hypoplasia of the distal phalanx of the hallux 		phenotype Finding 2 0.100 None 0
CUI: C0038833
Disease: Superior Vena Cava Syndrome
Superior Vena Cava Syndrome 		disease Cardiovascular Diseases Disease or Syndrome 3 0.300 None 1.000 1 2002 2002
CUI: C0242699
Disease: Bone Demineralization, Pathologic
Bone Demineralization, Pathologic 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 3 3 0.010 None 1.000 1 2012 2012
CUI: C1859148
Disease: Chondrodysplasia, blomstrand type
Chondrodysplasia, blomstrand type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Disease or Syndrome 3 3 0.010 None 1.000 1 1999 1999
CUI: C0265295
Disease: Jansen type metaphyseal chondrodysplasia
Jansen type metaphyseal chondrodysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 5 4 0.020 None 1.000 2 1995 1995
CUI: C0029405
Disease: Osteitis Fibrosa Cystica
Osteitis Fibrosa Cystica 		disease Musculoskeletal Diseases Disease or Syndrome 5 0.010 None 1.000 1 1996 1996
CUI: C1864723
Disease: Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 5 11 0.010 None 1.000 1 2011 2011
CUI: C1862102
Disease: BRACHYDACTYLY, TYPE E1
BRACHYDACTYLY, TYPE E1 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 5 3 0.100 None 0
CUI: C4054043
Disease: Secondary Peripheral Chondrosarcoma
Secondary Peripheral Chondrosarcoma 		disease Neoplastic Process 6 0.010 None 1.000 1 2006 2006
CUI: C0270733
Disease: Striatonigral Degeneration
Striatonigral Degeneration 		disease Nervous System Diseases Disease or Syndrome 7 0.010 None 1.000 1 2018 2018
CUI: C1839264
Disease: SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
SPASTIC PARAPLEGIA 2, X-LINKED (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 8 13 0.040 None 1.000 4 1995 2009
CUI: C4022024
Disease: Upper limb asymmetry
Upper limb asymmetry 		disease Anatomical Abnormality 9 0.100 None 0
CUI: C0751604
Disease: Hereditary X-Linked Recessive Spastic Paraplegia
Hereditary X-Linked Recessive Spastic Paraplegia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 10 0.030 None 1.000 3 2001 2009
CUI: C4274084
Disease: Pelizaeus Merzbacher like disease
Pelizaeus Merzbacher like disease 		disease Disease or Syndrome 10 0.020 None 1.000 2 1997 2003
CUI: C0005974
Disease: Bone Resorption
Bone Resorption 		phenotype Musculoskeletal Diseases Organ or Tissue Function 10 0.300 None 1.000 1 2006 2006
CUI: C1704328
Disease: Osteoblastic Osteosarcoma
Osteoblastic Osteosarcoma 		disease Neoplasms Neoplastic Process 10 0.010 None 1.000 1 2002 2002
CUI: C0206653
Disease: Angiomyoma
Angiomyoma 		disease Neoplasms Neoplastic Process 12 0.010 None 1.000 1 2002 2002
CUI: C1864100
Disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB
PSEUDOHYPOPARATHYROIDISM, TYPE IB 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 13 2 0.050 None 1.000 5 1995 1998
CUI: C0026141
Disease: Milk-Alkali Syndrome
Milk-Alkali Syndrome 		disease Nutritional and Metabolic Diseases Disease or Syndrome 13 0.300 None 1.000 4 1987 2002
CUI: C0443306
Disease: Spastic
Spastic 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Mental or Behavioral Dysfunction 13 0.010 None 1.000 1 1995 1995