Source: ALL

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5191
Gene Symbol: PEX7
PEX7 		peroxisomal biogenesis factor 7 0.603 0.615 8.2E-13
CUI: C1859133
Disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 		disease 0.980 None 0.964 28 42 1995 2017
Entrez Id: 5191
Gene Symbol: PEX7
PEX7 		peroxisomal biogenesis factor 7 0.603 0.615 8.2E-13
CUI: C2749346
Disease: Refsum Disease, Adult, 2
Refsum Disease, Adult, 2 		disease 0.700 None 1.000 14 13 1997 2016
Entrez Id: 5191
Gene Symbol: PEX7
PEX7 		peroxisomal biogenesis factor 7 0.603 0.615 8.2E-13
CUI: C0034960
Disease: Refsum Disease
Refsum Disease 		disease 0.660 None 1.000 7 2 1997 2012
Entrez Id: 5191
Gene Symbol: PEX7
PEX7 		peroxisomal biogenesis factor 7 0.603 0.615 8.2E-13
CUI: C0282529
Disease: Chondrodysplasia Punctata, Rhizomelic
Chondrodysplasia Punctata, Rhizomelic 		disease 0.600 None 0.950 20 0 1997 2017
Entrez Id: 5191
Gene Symbol: PEX7
PEX7 		peroxisomal biogenesis factor 7 0.603 0.615 8.2E-13
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		group 0.350 strong 0.800 5 0 1997 2011
Entrez Id: 5191
Gene Symbol: PEX7
PEX7 		peroxisomal biogenesis factor 7 0.603 0.615 8.2E-13
CUI: C1720802
Disease: Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency
Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency 		disease 0.300 None 1.000 1 0 2003 2003
Entrez Id: 5191
Gene Symbol: PEX7
PEX7 		peroxisomal biogenesis factor 7 0.603 0.615 8.2E-13
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 5191
Gene Symbol: PEX7
PEX7 		peroxisomal biogenesis factor 7 0.603 0.615 8.2E-13
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		disease 0.300 None 0 0
Entrez Id: 5191
Gene Symbol: PEX7
PEX7 		peroxisomal biogenesis factor 7 0.603 0.615 8.2E-13
CUI: C0008445
Disease: Chondrodysplasia Punctata
Chondrodysplasia Punctata 		disease 0.210 None 1.000 3 0 1997 2010
Entrez Id: 5191
Gene Symbol: PEX7
PEX7 		peroxisomal biogenesis factor 7 0.603 0.615 8.2E-13
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.110 None 1.000 1 0 2012 2012
Entrez Id: 5191
Gene Symbol: PEX7
PEX7 		peroxisomal biogenesis factor 7 0.603 0.615 8.2E-13
CUI: C1866352
Disease: Peroxisome Biogenesis Disorder, Complementation Group R
Peroxisome Biogenesis Disorder, Complementation Group R 		disease 0.100 None 1.000 12 13 1997 2015
Entrez Id: 5191
Gene Symbol: PEX7
PEX7 		peroxisomal biogenesis factor 7 0.603 0.615 8.2E-13
CUI: C1866351
Disease: Peroxisome Biogenesis Disorder, Complementation Group 11
Peroxisome Biogenesis Disorder, Complementation Group 11 		disease 0.100 None 1.000 12 13 1997 2015
Entrez Id: 5191
Gene Symbol: PEX7
PEX7 		peroxisomal biogenesis factor 7 0.603 0.615 8.2E-13
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 5191
Gene Symbol: PEX7
PEX7 		peroxisomal biogenesis factor 7 0.603 0.615 8.2E-13
CUI: C1834954
Disease: Coronal cleft vertebrae
Coronal cleft vertebrae 		phenotype 0.100 None 0 0
Entrez Id: 5191
Gene Symbol: PEX7
PEX7 		peroxisomal biogenesis factor 7 0.603 0.615 8.2E-13
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia 		disease 0.100 None 0 0
Entrez Id: 5191
Gene Symbol: PEX7
PEX7 		peroxisomal biogenesis factor 7 0.603 0.615 8.2E-13
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		phenotype 0.100 None 0 0
Entrez Id: 5191
Gene Symbol: PEX7
PEX7 		peroxisomal biogenesis factor 7 0.603 0.615 8.2E-13
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		phenotype 0.100 None 0 0
Entrez Id: 5191
Gene Symbol: PEX7
PEX7 		peroxisomal biogenesis factor 7 0.603 0.615 8.2E-13
CUI: C1848514
Disease: Short fourth metatarsal
Short fourth metatarsal 		phenotype 0.100 None 0 0
Entrez Id: 5191
Gene Symbol: PEX7
PEX7 		peroxisomal biogenesis factor 7 0.603 0.615 8.2E-13
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 0 0
Entrez Id: 5191
Gene Symbol: PEX7
PEX7 		peroxisomal biogenesis factor 7 0.603 0.615 8.2E-13
CUI: C1806780
Disease: Increased CSF protein
Increased CSF protein 		phenotype 0.100 None 0 0
Entrez Id: 5191
Gene Symbol: PEX7
PEX7 		peroxisomal biogenesis factor 7 0.603 0.615 8.2E-13
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype 0.100 None 0 0
Entrez Id: 5191
Gene Symbol: PEX7
PEX7 		peroxisomal biogenesis factor 7 0.603 0.615 8.2E-13
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		disease 0.100 None 0 0
Entrez Id: 5191
Gene Symbol: PEX7
PEX7 		peroxisomal biogenesis factor 7 0.603 0.615 8.2E-13
CUI: C0587246
Disease: Muscle weakness of limb
Muscle weakness of limb 		phenotype 0.100 None 0 0
Entrez Id: 5191
Gene Symbol: PEX7
PEX7 		peroxisomal biogenesis factor 7 0.603 0.615 8.2E-13
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		disease 0.100 None 0 0
Entrez Id: 5191
Gene Symbol: PEX7
PEX7 		peroxisomal biogenesis factor 7 0.603 0.615 8.2E-13
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group 0.100 None 0 0