IHH, Indian hedgehog signaling molecule, 3549

N. diseases: 130; N. variants: 14
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: C1865841
Disease: Flared iliac wings
Flared iliac wings 		phenotype Finding 19 0.100 None 0
CUI: C0024003
Disease: Lordosis
Lordosis 		phenotype Musculoskeletal Diseases Disease or Syndrome 160 15 0.100 None 0
CUI: C1850259
Disease: Short tibia
Short tibia 		phenotype Finding 17 0.100 None 0
CUI: C1855091
Disease: Short proximal phalanx of thumb
Short proximal phalanx of thumb 		phenotype Finding 2 0.100 None 0
CUI: C1855239
Disease: Cone-shaped metacarpal epiphyses
Cone-shaped metacarpal epiphyses 		phenotype Finding 3 0.100 None 0
CUI: C1855665
Disease: Ovoid vertebral bodies
Ovoid vertebral bodies 		phenotype Finding 25 0.100 None 0
CUI: C1860606
Disease: Short proximal phalanx of finger
Short proximal phalanx of finger 		phenotype Congenital Abnormality 3 0.100 None 0
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 50 0.100 None 0
CUI: C1861349
Disease: Absent distal interphalangeal creases
Absent distal interphalangeal creases 		phenotype Finding 6 1 0.100 None 0
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 207 26 0.100 None 0
CUI: C1862157
Disease: Proportionate shortening of all digits
Proportionate shortening of all digits 		phenotype Congenital Abnormality 4 2 0.100 None 0
CUI: C1862158
Disease: Terminal symphalangism of hands
Terminal symphalangism of hands 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 4 0.100 None 0
CUI: C1862159
Disease: Short proximal phalanx of hallux
Short proximal phalanx of hallux 		phenotype Finding 3 0.100 None 0
CUI: C1864298
Disease: Fibular overgrowth
Fibular overgrowth 		phenotype Finding 2 0.100 None 0
CUI: C0025995
Disease: Micromelia
Micromelia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 104 1 0.100 None 0
CUI: C0025160
Disease: Megacolon
Megacolon 		phenotype Digestive System Diseases Pathologic Function 9 9 0.100 None 0 1
CUI: C1865027
Disease: Hypoplastic iliac wing
Hypoplastic iliac wing 		disease Anatomical Abnormality 22 0.100 None 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.100 None 0
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 384 162 0.210 None 1.000 2 2000 2003
CUI: C0149955
Disease: Annular pancreas
Annular pancreas 		disease Digestive System Diseases Congenital Abnormality 19 1 0.200 None 1.000 1 2000 2000
CUI: C1862151
Disease: BRACHYDACTYLY, TYPE A1 (disorder)
BRACHYDACTYLY, TYPE A1 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 8 15 0.960 None 0.900 10 8 2001 2019
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		disease Endocrine System Diseases Disease or Syndrome 82 66 0.040 None 1.000 4 2003 2019
CUI: C1843096
Disease: Acrocapitofemoral Dysplasia
Acrocapitofemoral Dysplasia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 2 0.710 None 1.000 4 2 2003 2015
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.130 None 1.000 3 2004 2010
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 764 20 0.010 None 1.000 1 2004 2004