GMNN, geminin DNA replication inhibitor, 51053

N. diseases: 153; 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: C4225188
Disease: MEIER-GORLIN SYNDROME 6
MEIER-GORLIN SYNDROME 6
disease Disease or Syndrome 1 3 0.600 None 1.000 2 3 2015 2019
CUI: C0395837
Disease: Stenosis of external auditory canal
Stenosis of external auditory canal
disease Disease or Syndrome 25 4 0.100 None 1.000 1 2 2015 2015
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
phenotype Finding 391 49 0.100 None 1.000 1 1 2015 2015
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure
phenotype Finding 91 16 0.100 None 1.000 1 1 2015 2015
Simple syndactyly of toes, first web space
disease Congenital Abnormality 5 3 0.100 None 1.000 1 1 2015 2015
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype Finding 295 14 0.100 None 1.000 1 2 2015 2015
CUI: C0575802
Disease: Small hand
Small hand
phenotype Finding 108 31 0.100 None 1.000 1 1 2015 2015
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
phenotype Finding 85 9 0.100 None 1.000 1 1 2015 2015
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2019 2019
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
phenotype Pathologic Function 41 56 0.100 None 1.000 1 2 2015 2015
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 2008 2008
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 426 39 0.100 None 1.000 1 1 2015 2015
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border
phenotype Finding 95 15 0.100 None 1.000 1 2 2015 2015
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype Finding 159 25 0.100 None 1.000 1 1 2015 2015
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 407 35 0.100 None 1.000 1 1 2015 2015
CUI: C1853738
Disease: Long eyelashes
Long eyelashes
phenotype Finding 83 17 0.100 None 1.000 1 1 2015 2015
CUI: C1855514
Disease: Severe failure to thrive
Severe failure to thrive
phenotype Finding 14 4 0.100 None 1.000 1 1 2015 2015
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation
phenotype Finding 30 5 0.100 None 1.000 1 3 2015 2015
CUI: C1858539
Disease: Shawl scrotum
Shawl scrotum
phenotype Congenital Abnormality 19 2 0.100 None 1.000 1 1 2015 2015
CUI: C1859455
Disease: Small anterior fontanelle
Small anterior fontanelle
phenotype Finding 11 4 0.100 None 1.000 1 1 2015 2015
Atresia of the external auditory canal
disease Anatomical Abnormality 44 3 0.100 None 1.000 1 1 2015 2015
CUI: C3839280
Disease: High grade serous carcinoma
High grade serous carcinoma
disease Neoplastic Process 118 1 0.010 None 1.000 1 2018 2018
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay
phenotype Finding 36 13 0.100 None 1.000 1 2 2015 2015
CUI: C4021985
Disease: Germ cell neoplasia
Germ cell neoplasia
disease Neoplastic Process 22 0.010 None 1.000 1 2017 2017
Hypoplastic female external genitalia
disease Anatomical Abnormality 3 1 0.100 None 1.000 1 1 2015 2015