PROP1, PROP paired-like homeobox 1, 5626

N. diseases: 117; N. variants: 30
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: C0878683
Disease: Pituitary Dwarfism Type 3
Pituitary Dwarfism Type 3 		disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 1 30 0.700 None 1.000 36 30 1998 2017
CUI: C0877018
Disease: Pituitary enlargement
Pituitary enlargement 		phenotype Sign or Symptom 1 0.020 None 1.000 2 2006 2009
CUI: C3875161
Disease: Anterior pituitary hormone deficiency
Anterior pituitary hormone deficiency 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 2 0.020 None 1.000 2 2004 2006
CUI: C0342396
Disease: Idiopathic hypopituitarism
Idiopathic hypopituitarism 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2007 2007
CUI: C1334804
Disease: Motor Manifestations
Motor Manifestations 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 5 0.010 None 1.000 1 2019 2019
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Disease or Syndrome 6 24 0.300 None 1.000 1 1998 1998
CUI: C4022873
Disease: Small pituitary gland
Small pituitary gland 		disease Anatomical Abnormality 7 4 0.010 None 1.000 1 2004 2004
CUI: C4022751
Disease: Ectopic anterior pituitary gland
Ectopic anterior pituitary gland 		disease Congenital Abnormality 7 0.100 None 0
CUI: C4024171
Disease: Abnormality of secondary sexual hair
Abnormality of secondary sexual hair 		disease Finding 7 0.100 None 0
CUI: C0342422
Disease: Pituitary gland enlarged
Pituitary gland enlarged 		disease Nervous System Diseases; Endocrine System Diseases Anatomical Abnormality 8 0.010 None 1.000 1 2019 2019
CUI: C4021249
Disease: Anterior pituitary agenesis
Anterior pituitary agenesis 		phenotype Finding 8 0.100 None 0
CUI: C4022448
Disease: Abnormal prolactin level
Abnormal prolactin level 		phenotype Finding 9 0.100 None 0
CUI: C0342386
Disease: Follicle stimulating hormone deficiency
Follicle stimulating hormone deficiency 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 11 2 0.010 None 1.000 1 2007 2007
CUI: C1859692
Disease: Decreased cervical spine mobility
Decreased cervical spine mobility 		phenotype Finding 12 0.100 None 0
CUI: C2750604
Disease: Median cleft lip and palate
Median cleft lip and palate 		disease Congenital Abnormality 15 0.100 None 0
CUI: C4025170
Disease: Osteoporosis of vertebrae
Osteoporosis of vertebrae 		disease Disease or Syndrome 15 0.100 None 0
CUI: C0302280
Disease: Adrenogenital Syndrome
Adrenogenital Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 16 0.010 None 1.000 1 2019 2019
CUI: C3279571
Disease: Ectopic posterior pituitary
Ectopic posterior pituitary 		phenotype Finding 16 2 0.100 None 0
CUI: C4023911
Disease: Aplasia/Hypoplasia of the breasts
Aplasia/Hypoplasia of the breasts 		phenotype Finding 16 0.100 None 0
CUI: C1859775
Disease: Anterior pituitary hypoplasia
Anterior pituitary hypoplasia 		phenotype Finding 18 1 0.100 None 0
CUI: C4025669
Disease: Decreased circulating ACTH level
Decreased circulating ACTH level 		phenotype Finding 18 0.100 None 0
CUI: C0877056
Disease: Hypoglycemic seizures
Hypoglycemic seizures 		disease Nutritional and Metabolic Diseases Disease or Syndrome 19 0.100 None 0
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 20 26 0.010 None 1.000 1 2005 2005
CUI: C0020636
Disease: underdevelopment
underdevelopment 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 22 0.010 None 1.000 1 2001 2001
CUI: C0342388
Disease: Adrenocorticotropic hormone (ACTH) deficiency (disorder)
Adrenocorticotropic hormone (ACTH) deficiency (disorder) 		disease Endocrine System Diseases Disease or Syndrome 24 1 0.040 None 1.000 4 2000 2006