NHP2, NHP2 ribonucleoprotein, 55651

N. diseases: 91; 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: C3151441
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 		disease Disease or Syndrome 2 3 0.700 limited 1.000 4 3 2001 2014
CUI: C3502105
Disease: Dyskeratosis Congenita, Autosomal Recessive
Dyskeratosis Congenita, Autosomal Recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome; Congenital Abnormality 3 0.310 None 1.000 1 2008 2008
CUI: C0406438
Disease: Pterygium of nail
Pterygium of nail 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Anatomical Abnormality 4 1 0.100 None 0
CUI: C3279575
Disease: Reticulated skin pigmentation
Reticulated skin pigmentation 		phenotype Finding 8 0.100 None 0
CUI: C1281931
Disease: Obstruction of nasolacrimal duct
Obstruction of nasolacrimal duct 		phenotype Finding 12 2 0.100 None 0
CUI: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
HOYERAAL-HREIDARSSON SYNDROME 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Hemic and Lymphatic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 16 1 0.300 strong 1.000 1 2010 2010
CUI: C0014866
Disease: Esophageal Stenosis
Esophageal Stenosis 		disease Digestive System Diseases Disease or Syndrome 17 2 0.100 None 0
CUI: C0239804
Disease: White hair
White hair 		phenotype Finding 18 0.100 None 0
CUI: C4020958
Disease: Rough bone trabeculation
Rough bone trabeculation 		disease Anatomical Abnormality 19 0.100 None 0
CUI: C3814530
Disease: Skin Vesicle
Skin Vesicle 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 20 0.100 None 0
CUI: C4551650
Disease: Esophageal Stricture
Esophageal Stricture 		disease Digestive System Diseases Disease or Syndrome 20 2 0.100 None 0
CUI: C1856749
Disease: Aplastic/hypoplastic toenail
Aplastic/hypoplastic toenail 		phenotype Finding 23 1 0.100 None 0
CUI: C4025838
Disease: Abnormality of the pharynx
Abnormality of the pharynx 		disease Anatomical Abnormality 23 0.100 None 0
CUI: C0152227
Disease: Excessive tearing
Excessive tearing 		disease Eye Diseases Disease or Syndrome 26 2 0.100 None 0
CUI: C0156312
Disease: Atrophy of testis
Atrophy of testis 		disease Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 29 0.100 None 0
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology 		group Anatomical Abnormality 29 1 0.100 None 0
CUI: C4024737
Disease: Aplasia/Hypoplasia of the skin
Aplasia/Hypoplasia of the skin 		phenotype Finding 29 0.100 None 0
CUI: C1855204
Disease: Cellular immunodeficiency
Cellular immunodeficiency 		phenotype Immune System Diseases Finding 30 0.100 None 0
CUI: C4025900
Disease: Abnormality of female internal genitalia
Abnormality of female internal genitalia 		disease Anatomical Abnormality 31 0.100 None 0
CUI: C0263498
Disease: Premature canities
Premature canities 		phenotype Finding 33 4 0.100 None 0
CUI: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology 		phenotype Finding 39 0.100 None 0
CUI: C0266039
Disease: Taurodontism
Taurodontism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 40 10 0.100 None 0
CUI: C0041974
Disease: Urethral Stenosis
Urethral Stenosis 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 41 1 0.100 None 0
CUI: C0085660
Disease: Aseptic necrosis
Aseptic necrosis 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Pathologic Function 41 0.100 None 0
CUI: C3887513
Disease: Avascular necrosis
Avascular necrosis 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 41 0.100 None 0