Source: ORPHANET

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: 1911
Gene Symbol: PHC1
PHC1 		polyhomeotic homolog 1 0.644 0.692 1.00
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		disease 0.300 None 0 0
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C2931588
Disease: GEMSS syndrome
GEMSS syndrome 		disease 0.300 None 0 0
Entrez Id: 2253
Gene Symbol: FGF8
FGF8 		fibroblast growth factor 8 0.507 0.769 0.68
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		disease 0.300 None 0 0
Entrez Id: 2253
Gene Symbol: FGF8
FGF8 		fibroblast growth factor 8 0.507 0.769 0.68
CUI: C0431363
Disease: Alobar Holoprosencephaly
Alobar Holoprosencephaly 		disease 0.300 None 0 0
Entrez Id: 2253
Gene Symbol: FGF8
FGF8 		fibroblast growth factor 8 0.507 0.769 0.68
CUI: C0751617
Disease: Semilobar Holoprosencephaly
Semilobar Holoprosencephaly 		disease 0.400 None 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C4082304
Disease: Oligodontia
Oligodontia 		disease 0.400 None 0 0
Entrez Id: 2272
Gene Symbol: FHIT
FHIT 		fragile histidine triad diadenosine triphosphatase 0.444 0.846 5.7E-03
CUI: C1333985
Disease: Hereditary clear cell renal cell carcinoma
Hereditary clear cell renal cell carcinoma 		disease 0.300 None 0 0
Entrez Id: 2273
Gene Symbol: FHL1
FHL1 		four and a half LIM domains 1 0.532 0.731 0.97
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		disease 0.300 None 0 0
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1 		forkhead box G1 0.522 0.692 0.94
CUI: C4305240
Disease: 14q12 microdeletion syndrome
14q12 microdeletion syndrome 		disease 0.300 None 0 0
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1 		forkhead box G1 0.522 0.692 0.94
CUI: C4749855
Disease: 14q11.2 microduplication syndrome
14q11.2 microduplication syndrome 		disease 0.300 None 0 0
Entrez Id: 23175
Gene Symbol: LPIN1
LPIN1 		lipin 1 0.601 0.692 6.5E-13
CUI: C4274324
Disease: Genetic recurrent myoglobinuria
Genetic recurrent myoglobinuria 		disease 0.300 None 0 0
Entrez Id: 23224
Gene Symbol: SYNE2
SYNE2 		spectrin repeat containing nuclear envelope protein 2 0.623 0.692 1.7E-25
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		disease 0.500 None 0 0
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP 		TAR DNA binding protein 0.493 0.808 0.99
CUI: C3888102
Disease: Frontotemporal Dementia With Motor Neuron Disease
Frontotemporal Dementia With Motor Neuron Disease 		disease 0.300 None 0 0
Entrez Id: 23630
Gene Symbol: KCNE5
KCNE5 		potassium voltage-gated channel subfamily E regulatory subunit 5 0.666 0.500 0.12
CUI: C1846242
Disease: Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 		disease 0.300 None 0 0
Entrez Id: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C3888925
Disease: Pompe's disease adult onset
Pompe's disease adult onset 		disease 0.300 None 0 0
Entrez Id: 2566
Gene Symbol: GABRG2
GABRG2 		gamma-aminobutyric acid type A receptor subunit gamma2 0.548 0.654 0.74
CUI: C1838604
Disease: EPILEPSY, CHILDHOOD ABSENCE, 1
EPILEPSY, CHILDHOOD ABSENCE, 1 		disease 0.300 None 0 0
Entrez Id: 25970
Gene Symbol: SH2B1
SH2B1 		SH2B adaptor protein 1 0.566 0.731 0.97
CUI: C1866432
Disease: OBESITY, SUSCEPTIBILITY TO
OBESITY, SUSCEPTIBILITY TO 		phenotype 0.300 None 0 0
Entrez Id: 25970
Gene Symbol: SH2B1
SH2B1 		SH2B adaptor protein 1 0.566 0.731 0.97
CUI: C3150154
Disease: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB 		disease 0.300 None 0 0
Entrez Id: 25970
Gene Symbol: SH2B1
SH2B1 		SH2B adaptor protein 1 0.566 0.731 0.97
CUI: C3150701
Disease: CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB
CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB 		disease 0.300 None 0 0
Entrez Id: 25970
Gene Symbol: SH2B1
SH2B1 		SH2B adaptor protein 1 0.566 0.731 0.97
CUI: C3150702
Disease: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 16
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 16 		phenotype 0.300 None 0 0
Entrez Id: 25970
Gene Symbol: SH2B1
SH2B1 		SH2B adaptor protein 1 0.566 0.731 0.97
CUI: C3552491
Disease: AUTISM, SUSCEPTIBILITY TO, 14A
AUTISM, SUSCEPTIBILITY TO, 14A 		phenotype 0.300 None 0 0
Entrez Id: 261734
Gene Symbol: NPHP4
NPHP4 		nephrocystin 4 0.674 0.423 1.7E-29
CUI: C1855681
Disease: Nephronophthisis, familial juvenile
Nephronophthisis, familial juvenile 		disease 0.300 None 0 0
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C1856303
Disease: GSD IV, Neuromuscular Form, Fatal Perinatal
GSD IV, Neuromuscular Form, Fatal Perinatal 		disease 0.300 None 0 0
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C1856304
Disease: GSD IV, Neuromuscular Form, Congenital
GSD IV, Neuromuscular Form, Congenital 		disease 0.400 None 0 0
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C1856305
Disease: GSD IV, Neuromuscular Form, Childhood
GSD IV, Neuromuscular Form, Childhood 		disease 0.400 None 0 0