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: 100049159
Gene Symbol: SPG37
SPG37
spastic paraplegia 37 (autosomal dominant) 1.000 0.077
SPASTIC PARAPLEGIA 37, AUTOSOMAL DOMINANT (disorder)
disease 0.300 None 0 0
Entrez Id: 100049707
Gene Symbol: SPG38
SPG38
spastic paraplegia 38 (autosomal dominant, Silver syndrome) 0.890 0.115
SPASTIC PARAPLEGIA 38, AUTOSOMAL DOMINANT (disorder)
disease 0.300 None 0 0
Entrez Id: 1030
Gene Symbol: CDKN2B
CDKN2B
cyclin dependent kinase inhibitor 2B 0.417 0.769 7.3E-03
Familial Atypical Mole Melanoma Syndrome
disease 0.300 None 0 0
Entrez Id: 10370
Gene Symbol: CITED2
CITED2
Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 0.576 0.654 0.76
CUI: C0037221
Disease: Situs Inversus
Situs Inversus
disease 0.300 None 0 0
Entrez Id: 10913
Gene Symbol: EDAR
EDAR
ectodysplasin A receptor 0.623 0.423 1.3E-06
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder)
disease 0.300 None 0 0
Entrez Id: 11181
Gene Symbol: TREH
TREH
trehalase 0.670 0.654 9.0E-15
CUI: C0268187
Disease: alpha, alpha-Trehalase deficiency
alpha, alpha-Trehalase deficiency
disease 0.600 None 0 0
Entrez Id: 11236
Gene Symbol: RNF139
RNF139
ring finger protein 139 0.670 0.423 0.54
Hereditary clear cell renal cell carcinoma
disease 0.300 None 0 0
Entrez Id: 11280
Gene Symbol: SCN11A
SCN11A
sodium voltage-gated channel alpha subunit 11 0.666 0.462 6.9E-26
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia
disease 0.300 None 0 0
Entrez Id: 11280
Gene Symbol: SCN11A
SCN11A
sodium voltage-gated channel alpha subunit 11 0.666 0.462 6.9E-26
Hereditary Sensory Autonomic Neuropathy, Type 5
disease 0.300 None 0 0
Entrez Id: 11280
Gene Symbol: SCN11A
SCN11A
sodium voltage-gated channel alpha subunit 11 0.666 0.462 6.9E-26
CUI: C1833661
Disease: PAROXYSMAL EXTREME PAIN DISORDER
PAROXYSMAL EXTREME PAIN DISORDER
disease 0.300 None 0 0
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
Parkinsonism associated deglycase 0.535 0.808 0.75
Amyotrophic Lateral Sclerosis, Guam Form
disease 0.300 None 0 0
Entrez Id: 128178
Gene Symbol: EDARADD
EDARADD
EDAR associated death domain 0.638 0.462 3.2E-04
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder)
disease 0.300 None 0 0
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
Centripetalis recessive dystrophic epidermolysis bullosa
disease 0.300 None 0 0
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
Acral dystrophic epidermolysis bullosa
disease 0.300 None 0 0
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
collagen type XVII alpha 1 chain 0.545 0.769 2.3E-27
Late-onset junctional epidermolysis bullosa
disease 0.300 None 0 0
Entrez Id: 1312
Gene Symbol: COMT
COMT
catechol-O-methyltransferase 0.400 0.923 1.1E-06
CUI: C0431406
Disease: Asymmetric crying face association
Asymmetric crying face association
disease 0.300 None 0 0
Entrez Id: 1312
Gene Symbol: COMT
COMT
catechol-O-methyltransferase 0.400 0.923 1.1E-06
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome
disease 0.300 None 0 0
Entrez Id: 135228
Gene Symbol: CD109
CD109
CD109 molecule 0.595 0.654 2.3E-44
Neonatal Alloimmune Thrombocytopenia
disease 0.400 None 0 0
Entrez Id: 1399
Gene Symbol: CRKL
CRKL
CRK like proto-oncogene, adaptor protein 0.553 0.769 0.45
Chromosome 22q11.2 Deletion Syndrome, Distal
disease 0.300 None 0 0
Entrez Id: 140907
Gene Symbol: SPG19
SPG19
spastic paraplegia 19 (autosomal dominant) 0.931 0.077
SPASTIC PARAPLEGIA 19, AUTOSOMAL DOMINANT (disorder)
disease 0.300 None 0 0
Entrez Id: 1490
Gene Symbol: CCN2
CCN2
cellular communication network factor 2 0.399 0.846 5.0E-04
CUI: C0206138
Disease: CREST Syndrome
CREST Syndrome
disease 0.300 None 0 0
Entrez Id: 1490
Gene Symbol: CCN2
CCN2
cellular communication network factor 2 0.399 0.846 5.0E-04
CUI: C0748540
Disease: Scleroderma, Limited
Scleroderma, Limited
disease 0.300 None 0 0
Entrez Id: 1501
Gene Symbol: CTNND2
CTNND2
catenin delta 2 0.579 0.731 1.00
CUI: C2931860
Disease: Monosomy 5p
Monosomy 5p
disease 0.300 None 0 0
Entrez Id: 1585
Gene Symbol: CYP11B2
CYP11B2
cytochrome P450 family 11 subfamily B member 2 0.553 0.615 7.1E-19
CUI: C4275180
Disease: Familial hypoaldosteronism
Familial hypoaldosteronism
disease 0.300 None 0 0
Entrez Id: 1806
Gene Symbol: DPYD
DPYD
dihydropyrimidine dehydrogenase 0.493 0.846 3.4E-22
CUI: C0274576
Disease: Poisoning by fluorouracil
Poisoning by fluorouracil
disease 0.300 None 0 0