MLPH, melanophilin, 79083

N. diseases: 23; 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: C1836573
Disease: GRISCELLI SYNDROME, TYPE 3
GRISCELLI SYNDROME, TYPE 3
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 2 1 0.700 moderate 1.000 1 1 2003 2003
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.120 None 1.000 4 2 2011 2020
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.120 None 1.000 3 2 2011 2020
CUI: C0154920
Disease: Pigmentary iris degeneration
Pigmentary iris degeneration
phenotype Eye Diseases; Skin and Connective Tissue Diseases Finding 37 0.100 None 0
CUI: C1836576
Disease: Silver-gray hair
Silver-gray hair
phenotype Finding 4 0.100 None 0
CUI: C0080024
Disease: Piebaldism
Piebaldism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 33 18 0.100 None 0
CUI: C1836736
Disease: White eyelashes
White eyelashes
phenotype Finding 8 0.100 None 0
CUI: C3278401
Disease: Hypopigmentation of hair
Hypopigmentation of hair
phenotype Finding 23 1 0.100 None 0
Large clumps of pigment irregularly distributed along hair shaft
phenotype Finding 2 1 0.100 None 0
Hypopigmentation-immunodeficiency disease
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 14 3 0.070 None 1.000 7 1 2003 2012
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 54 6 0.020 None 1.000 2 2003 2004
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder
disease Skin and Connective Tissue Diseases Disease or Syndrome 126 15 0.020 None 1.000 2 1 2003 2012
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.010 None < 0.001 1 2018 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2009 2009
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.010 None 1.000 1 2009 2009
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.010 None 1.000 1 2004 2004
CUI: C0206739
Disease: Epithelioid and spindle cell nevus
Epithelioid and spindle cell nevus
disease Neoplasms Neoplastic Process 21 0.010 None 1.000 1 2019 2019
Secondary malignant neoplasm of bone
disease Pathological Conditions, Signs and Symptoms; Neoplasms; Musculoskeletal Diseases Neoplastic Process 647 18 0.010 None 1.000 1 2018 2018
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1098 182 0.010 None 1.000 1 2017 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2016 2016
CUI: C0025286
Disease: Meningioma
Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 634 43 0.010 None 1.000 1 2009 2009
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.010 None < 0.001 1 2018 2018
CUI: C4522245
Disease: Atypical Spitz Nevus
Atypical Spitz Nevus
disease Neoplastic Process 9 0.010 None < 0.001 1 2018 2018