Source: UNIPROT

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: 6609
Gene Symbol: SMPD1
SMPD1
sphingomyelin phosphodiesterase 1 0.555 0.759 1.6E-10
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B
disease 0.770 1.000 24 0 1991 2018
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
sphingomyelin phosphodiesterase 1 0.555 0.759 1.6E-10
CUI: C0268248
Disease: Niemann-Pick Disease, Type E
Niemann-Pick Disease, Type E
disease 0.500 24 0 1991 2016
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
sphingomyelin phosphodiesterase 1 0.555 0.759 1.6E-10
CUI: C1843418
Disease: Niemann-Pick Disease, Type F
Niemann-Pick Disease, Type F
disease 0.300 24 0 1991 2016
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
sphingomyelin phosphodiesterase 1 0.555 0.759 1.6E-10
Niemann-Pick Disease, Intermediate, With Visceral Involvement And Rapid Progression
disease 0.300 24 0 1991 2016
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
sphingomyelin phosphodiesterase 1 0.555 0.759 1.6E-10
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A
disease 0.740 1.000 18 0 1991 2017
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
sphingomyelin phosphodiesterase 1 0.555 0.759 1.6E-10
NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL (disorder)
disease 0.400 18 0 1991 2016
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
HNF1 homeobox A 0.515 0.621 0.96
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
disease 0.900 0.969 17 0 1997 2018
Entrez Id: 7490
Gene Symbol: WT1
WT1
Wilms tumor 1 0.444 0.690 1.00
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome
disease 1.000 0.960 17 0 1983 2017
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
thyroid stimulating hormone receptor 0.510 0.690 5.2E-15
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune
disease 0.800 1.000 16 0 1982 2015
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.472 0.724 1.00
Osteogenesis imperfecta type III (disorder)
disease 0.960 1.000 15 0 1989 2016
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
potassium voltage-gated channel subfamily J member 11 0.542 0.552 9.8E-03
DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES
disease 0.600 13 0 2003 2017
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
potassium voltage-gated channel subfamily J member 11 0.542 0.552 9.8E-03
DIABETES MELLITUS, PERMANENT NEONATAL
disease 1.000 1.000 13 0 1993 2018
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
potassium voltage-gated channel subfamily J member 11 0.542 0.552 9.8E-03
Developmental Delay, Epilepsy, and Neonatal Diabetes
disease 0.770 1.000 13 0 2004 2017
Entrez Id: 546
Gene Symbol: ATRX
ATRX
ATRX, chromatin remodeler 0.489 0.690 1.00
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
disease 1.000 1.000 12 0 1993 2018
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.472 0.724 1.00
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease
disease 1.000 0.963 12 0 1989 2018
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.472 0.724 1.00
Osteogenesis imperfecta type IV (disorder)
disease 0.960 1.000 11 0 1989 2016
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
galactosidase beta 1 0.457 0.828 7.6E-10
Gangliosidosis, Generalized GM1, Type 2
disease 0.720 1.000 11 0 1991 2015
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
galactosidase beta 1 0.457 0.828 7.6E-10
Gangliosidosis, Generalized GM1, Type 3
disease 0.720 1.000 11 0 1981 2015
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
galactosidase beta 1 0.457 0.828 7.6E-10
Gangliosidosis, Generalized GM1, Late-Infantile Type
disease 0.300 11 0 1991 2015
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
ATPase copper transporting alpha 0.518 0.655 1.00
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
disease 1.000 definitive 0.958 10 0 1953 2018
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.512 0.690 1.00
BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE
disease 0.920 1.000 8 0 1981 2017
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.512 0.690 1.00
Brain Small Vessel Disease With Axenfeld-Rieger Anomaly
disease 0.700 8 0 2005 2015
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.512 0.690 1.00
BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES
disease 0.500 8 0 2005 2015
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.469 0.690 1.00
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME
disease 0.700 8 0 2011 2017
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
galactosidase beta 1 0.457 0.828 7.6E-10
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB
disease 0.800 1.000 8 0 1984 2017