DKC1, dyskerin pseudouridine synthase 1, 1736

N. diseases: 142; N. variants: 39
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: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 41 24 0.900 1.000 37 3 1998 2018
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 8 38 0.700 0.917 41 38 1986 2018
CUI: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
HOYERAAL-HREIDARSSON SYNDROME
disease Behavior and Behavior Mechanisms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Mental Disorders; Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 11 22 0.650 1.000 14 22 1993 2017
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders; Nervous System Diseases Congenital Abnormality 143 6 0.410 strong 1.000 3 1998 2000
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.400 strong 0
GROWTH RETARDATION, PRENATAL, WITH PROGRESSIVE PANCYTOPENIA AND CEREBELLAR HYPOPLASIA
disease Disease or Syndrome 1 22 0.300 11 22 1998 2015
CUI: C0158995
Disease: Congenital anemia
Congenital anemia
disease Disease or Syndrome 208 0.300 strong 4 1998 2000
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype Pathologic Function 206 0.300 strong 4 1998 2000
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
group Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 556 37 0.300 strong 2 2017 2017
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 115 2 0.150 1.000 5 1 1999 2010
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 1702 215 0.110 1.000 1 2009 2009
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 984 116 0.100 0
CUI: C1851971
Disease: Hypoplastic myelodysplasia
Hypoplastic myelodysplasia
phenotype Finding 22 0.100 0
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias
disease Congenital Abnormality 179 17 0.100 0
CUI: C1704317
Disease: Leukokeratosis
Leukokeratosis
phenotype Neoplasms; Pathological Conditions, Signs and Symptoms Anatomical Abnormality 24 0.100 0
Varying degree of multiple fractures
phenotype Finding 71 0.100 0
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch
phenotype Finding 72 0.100 0
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation
group Finding 38 0.100 0
CUI: C1844632
Disease: Anal mucosal leukoplakia
Anal mucosal leukoplakia
phenotype Finding 2 0.100 0
CUI: C1837770
Disease: Sparse hair
Sparse hair
phenotype Finding 95 2 0.100 0
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule
phenotype Finding 48 0.100 0
CUI: C1843300
Disease: Sparse eyelashes
Sparse eyelashes
phenotype Finding 48 0.100 0
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
phenotype Pathologic Function 277 6 0.100 0
CUI: C0423903
Disease: Low intelligence
Low intelligence
phenotype Finding 946 0.100 0
CUI: C0392386
Disease: Decreased platelet count
Decreased platelet count
phenotype Finding 151 0.100 0