RIN2, Ras and Rab interactor 2, 54453

N. diseases: 86; N. variants: 10
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: C4023449
Disease: Infra-orbital fold
Infra-orbital fold 		phenotype Finding 1 0.100 None 0
CUI: C2751321
Disease: Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 3 0.720 strong 1.000 4 3 2009 2020
CUI: C3839407
Disease: Edema of upper eyelid
Edema of upper eyelid 		phenotype Finding 3 0.100 None 0
CUI: C3838784
Disease: Bilateral cerebral palsy
Bilateral cerebral palsy 		disease Nervous System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2018 2018
CUI: C1856765
Disease: Irregular dentition
Irregular dentition 		phenotype Finding 6 1 0.100 None 0
CUI: C3550430
Disease: Eclabion
Eclabion 		phenotype Finding 6 2 0.100 None 0
CUI: C0202159
Disease: Parathyroid hormone measurement
Parathyroid hormone measurement 		phenotype Laboratory Procedure 10 15 0.100 None 1.000 1 1 2018 2018
CUI: C0338596
Disease: Spastic cerebral palsy
Spastic cerebral palsy 		disease Nervous System Diseases Disease or Syndrome; Congenital Abnormality 13 0.010 None 1.000 1 2017 2017
CUI: C0162285
Disease: Edema of eyelid
Edema of eyelid 		phenotype Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases; Cardiovascular Diseases Pathologic Function 22 1 0.100 None 0 1
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 27 17 0.100 None 0 1
CUI: C1832446
Disease: Sparse eyebrow
Sparse eyebrow 		phenotype Finding 31 6 0.100 None 0 1
CUI: C0241703
Disease: High pitched voice
High pitched voice 		phenotype Finding 35 1 0.100 None 0
CUI: C0151529
Disease: Prolonged bleeding time
Prolonged bleeding time 		phenotype Finding 39 3 0.100 None 0
CUI: C1390474
Disease: Increased susceptibility to fractures
Increased susceptibility to fractures 		phenotype Finding 42 5 0.100 None 0
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		phenotype Anatomical Abnormality 46 11 0.100 None 0
CUI: C0581342
Disease: Redundant skin
Redundant skin 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Pathologic Function 48 2 0.100 None 0
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin 		phenotype Finding 50 11 0.100 None 0
CUI: C0564567
Disease: Impulsive character (finding)
Impulsive character (finding) 		phenotype Mental or Behavioral Dysfunction 52 19 0.010 None 1.000 1 2017 2017
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		phenotype Finding 64 116 0.100 None 0 1
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		phenotype Finding 68 8 0.100 None 0
CUI: C0042693
Disease: Violence
Violence 		phenotype Mental or Behavioral Dysfunction 70 6 0.010 None 1.000 1 2020 2020
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism 		disease Endocrine System Diseases Disease or Syndrome 80 6 0.100 None 0
CUI: C3662483
Disease: Allergic sensitization
Allergic sensitization 		disease Disease or Syndrome 85 26 0.010 None 1.000 1 2019 2019
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		phenotype Finding 85 7 0.100 None 0
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 86 163 0.010 None 1.000 1 2020 2020