FOXH1, forkhead box H1, 8928

N. diseases: 67; N. variants: 3
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: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 109 45 0.420 limited 1.000 3 2008 2016
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 274 83 0.400 None 1.000 1 2014 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.310 None 1.000 1 2 2019 2019
CUI: C0431363
Disease: Alobar Holoprosencephaly
Alobar Holoprosencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 16 0.300 None 0
CUI: C0751617
Disease: Semilobar Holoprosencephaly
Semilobar Holoprosencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 17 5 0.300 None 0
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 37 2 0.300 None 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.300 limited 0
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 39 8 0.200 None 0
CUI: C3553676
Disease: HETEROTAXY, VISCERAL, 6, AUTOSOMAL
HETEROTAXY, VISCERAL, 6, AUTOSOMAL
disease Disease or Syndrome 30 2 0.200 None 0
CUI: C0265242
Disease: Otocephaly
Otocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 4 2 0.200 None 0
CUI: C1415817
Disease: HETEROTAXY, VISCERAL, 2, AUTOSOMAL
HETEROTAXY, VISCERAL, 2, AUTOSOMAL
disease Disease or Syndrome 39 5 0.200 None 0
CUI: C1853444
Disease: Heterotaxy, Visceral, 3, Autosomal
Heterotaxy, Visceral, 3, Autosomal
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 29 0.200 None 0
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 30 17 0.200 None 0
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
disease Disease or Syndrome 30 3 0.200 None 0
CUI: C3151057
Disease: HETEROTAXY, VISCERAL, 4, AUTOSOMAL
HETEROTAXY, VISCERAL, 4, AUTOSOMAL
disease Disease or Syndrome 29 2 0.200 None 0
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished
phenotype Finding 89 11 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C0266667
Disease: Cyclocephaly
Cyclocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 35 0.100 None 0
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 148 1 0.100 None 0
CUI: C4551564
Disease: Narrow nasal bridge
Narrow nasal bridge
phenotype Finding 47 2 0.100 None 0
Congenital absence of kidneys syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 110 0.100 None 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities
phenotype Musculoskeletal Diseases; Nervous System Diseases Pathologic Function 115 16 0.100 None 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0
CUI: C1861324
Disease: Short philtrum
Short philtrum
phenotype Finding 182 25 0.100 None 0