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: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility
phenotype Finding 181 12 0.100 None 0
Aplasia/Hypoplasia of the distal phalanx of the hallux
phenotype Finding 2 0.100 None 0
CUI: C4022024
Disease: Upper limb asymmetry
Upper limb asymmetry
disease Anatomical Abnormality 9 0.100 None 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 321 22 0.100 None 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 367 10 0.100 None 0
CUI: C1837084
Disease: Short metacarpal
Short metacarpal
phenotype Finding 66 7 0.100 None 0
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger
phenotype Finding 85 3 0.100 None 0
CUI: C1849020
Disease: Short metatarsal
Short metatarsal
phenotype Finding 34 1 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
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: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0
CUI: C0565599
Disease: Maternal hypertension
Maternal hypertension
disease Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases Disease or Syndrome 52 22 0.010 None < 0.001 1 1998 1998
CUI: C0205851
Disease: Germ cell tumor
Germ cell tumor
disease Neoplasms Neoplastic Process 278 5 0.010 None < 0.001 1 2000 2000
CUI: C3714636
Disease: Pneumonitis
Pneumonitis
disease Infections; Respiratory Tract Diseases Disease or Syndrome 697 13 0.010 None < 0.001 1 2019 2019
CUI: C0008354
Disease: Cholera
Cholera
disease Infections Disease or Syndrome 209 1 0.010 None < 0.001 1 1996 1996
CUI: C0343641
Disease: Human papilloma virus infection
Human papilloma virus infection
disease Infections Disease or Syndrome 429 42 0.010 None < 0.001 1 1994 1994
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Congenital Abnormality 138 26 0.010 None < 0.001 1 2019 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.020 None 0.500 2 2005 2018
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
disease Digestive System Diseases Disease or Syndrome 502 80 0.020 None 0.500 2 2012 2014
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 454 44 0.020 None 0.500 2 2001 2014
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura
disease Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 198 59 0.030 None 0.667 3 1996 2002
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.040 None 0.750 4 1997 2017
CUI: C0023493
Disease: Adult T-Cell Lymphoma/Leukemia
Adult T-Cell Lymphoma/Leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 540 11 0.100 None 0.909 11 1988 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.937 79 1990 2020
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.100 None 0.941 34 1992 2019