Source: CLINVAR

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: 1211
Gene Symbol: CLTA
CLTA 		clathrin light chain A 0.628 0.654 0.96
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 1259
Gene Symbol: CNGA1
CNGA1 		cyclic nucleotide gated channel subunit alpha 1 0.695 0.269 2.8E-11
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 1259
Gene Symbol: CNGA1
CNGA1 		cyclic nucleotide gated channel subunit alpha 1 0.695 0.269 2.8E-11
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1 		alpha-2-macroglobulin like 1 0.590 0.692 1.6E-34
CUI: C1833692
Disease: OTITIS MEDIA, SUSCEPTIBILITY TO (finding)
OTITIS MEDIA, SUSCEPTIBILITY TO (finding) 		disease 0.100 None 1.000 1 3 2019 2019
Entrez Id: 152519
Gene Symbol: NIPAL1
NIPAL1 		NIPA like domain containing 1 0.760 0.346 2.5E-10
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 152519
Gene Symbol: NIPAL1
NIPAL1 		NIPA like domain containing 1 0.760 0.346 2.5E-10
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 169522
Gene Symbol: KCNV2
KCNV2 		potassium voltage-gated channel modifier subfamily V member 2 0.736 0.115 1.2E-26
CUI: C0271092
Disease: Progressive cone dystrophy (without rod involvement)
Progressive cone dystrophy (without rod involvement) 		disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 169522
Gene Symbol: KCNV2
KCNV2 		potassium voltage-gated channel modifier subfamily V member 2 0.736 0.115 1.2E-26
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 197257
Gene Symbol: LDHD
LDHD 		lactate dehydrogenase D 0.861 0.308 1.3E-13
CUI: C1855552
Disease: Lactic Aciduria due to D-Lactic Acid
Lactic Aciduria due to D-Lactic Acid 		disease 0.400 None 1.000 1 2 2019 2019
Entrez Id: 2147
Gene Symbol: F2
F2 		coagulation factor II, thrombin 0.415 0.885 1.1E-03
CUI: C4021097
Disease: Reduced prothrombin activity
Reduced prothrombin activity 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 2155
Gene Symbol: F7
F7 		coagulation factor VII 0.623 0.615 1.3E-05
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 2157
Gene Symbol: F8
F8 		coagulation factor VIII 0.542 0.769 1.00
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		phenotype 0.100 None 1.000 1 3 2019 2019
Entrez Id: 2158
Gene Symbol: F9
F9 		coagulation factor IX 0.465 0.885 1.00
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 2160
Gene Symbol: F11
F11 		coagulation factor XI 0.590 0.692 3.6E-26
CUI: C0272315
Disease: Coagulation factor deficiency syndrome
Coagulation factor deficiency syndrome 		group 0.100 None 1.000 1 1 2019 2019
Entrez Id: 2160
Gene Symbol: F11
F11 		coagulation factor XI 0.590 0.692 3.6E-26
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency 		phenotype 0.100 None 1.000 1 3 2019 2019
Entrez Id: 2239
Gene Symbol: GPC4
GPC4 		glypican 4 0.547 0.769 0.93
CUI: C1850627
Disease: Nasodigitoacoustic syndrome
Nasodigitoacoustic syndrome 		disease 0.410 None 1.000 1 6 2019 2019
Entrez Id: 2243
Gene Symbol: FGA
FGA 		fibrinogen alpha chain 0.573 0.769 1.2E-13
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 2244
Gene Symbol: FGB
FGB 		fibrinogen beta chain 0.584 0.692 0.57
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 2266
Gene Symbol: FGG
FGG 		fibrinogen gamma chain 0.633 0.615 5.0E-02
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2 		IQ motif and Sec7 domain ArfGEF 2 0.573 0.577 1.00
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 23363
Gene Symbol: OBSL1
OBSL1 		obscurin like cytoskeletal adaptor 1 0.686 0.308 1.0E-25
CUI: C0024003
Disease: Lordosis
Lordosis 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 23363
Gene Symbol: OBSL1
OBSL1 		obscurin like cytoskeletal adaptor 1 0.686 0.308 1.0E-25
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 23363
Gene Symbol: OBSL1
OBSL1 		obscurin like cytoskeletal adaptor 1 0.686 0.308 1.0E-25
CUI: C0221358
Disease: Long narrow head
Long narrow head 		disease 0.100 None 1.000 1 2 2019 2019
Entrez Id: 23363
Gene Symbol: OBSL1
OBSL1 		obscurin like cytoskeletal adaptor 1 0.686 0.308 1.0E-25
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 1.000 1 3 2019 2019
Entrez Id: 23363
Gene Symbol: OBSL1
OBSL1 		obscurin like cytoskeletal adaptor 1 0.686 0.308 1.0E-25
CUI: C0426789
Disease: Short thorax
Short thorax 		phenotype 0.100 None 1.000 1 3 2019 2019