B4GALT7, beta-1,4-galactosyltransferase 7, 11285

N. diseases: 79; N. variants: 9
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: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 2017 2017
CUI: C0744483
Disease: growth hormone treatment
growth hormone treatment
disease Disease or Syndrome 20 1 0.010 None 1.000 1 2019 2019
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 1 2018 2018
CUI: C0239234
Disease: Low set ears
Low set ears
disease Congenital Abnormality 489 64 0.100 None 0
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin
phenotype Finding 50 11 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype Finding 77 4 0.100 None 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype Finding 271 106 0.100 None 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax
phenotype Finding 112 18 0.100 None 0
CUI: C0426807
Disease: Short clavicle
Short clavicle
phenotype Finding 26 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
phenotype Pathologic Function 306 12 0.100 None 0
CUI: C0545053
Disease: Advanced bone age
Advanced bone age
phenotype Finding 64 4 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease Congenital Abnormality 417 30 0.100 None 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation
phenotype Finding 58 5 0.100 None 0
CUI: C1843300
Disease: Sparse eyelashes
Sparse eyelashes
phenotype Finding 60 4 0.100 None 0
CUI: C1849364
Disease: Absent earlobe
Absent earlobe
phenotype Congenital Abnormality 14 1 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
phenotype Finding 429 29 0.100 None 0
CUI: C1851797
Disease: Palmoplantar cutis gyrata
Palmoplantar cutis gyrata
phenotype Finding 2 0.100 None 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion
phenotype Finding 228 0.100 None 0
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones
phenotype Congenital Abnormality 63 5 0.100 None 0
CUI: C1855538
Disease: Small face
Small face
phenotype Finding 10 0.100 None 0
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair
phenotype Finding 85 7 0.100 None 0
CUI: C1857485
Disease: Flat forehead
Flat forehead
phenotype Finding 11 0.100 None 0
CUI: C1857710
Disease: Progeroid facial appearance
Progeroid facial appearance
phenotype Finding 14 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0