Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 200373
Gene Symbol: CFAP221
CFAP221
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.320 GermlineCausalMutation ORPHANET Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia. 31636325

2020
Entrez Id: 200373
Gene Symbol: CFAP221
CFAP221
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.320 GermlineCausalMutation ORPHANET These results show that genetic variants in CFAP221 cause PCD and that CFAP221 should be considered a candidate gene in cases where PCD is suspected but cilia structure and beat frequency appear normal. 31636325

2020
Entrez Id: 200373
Gene Symbol: CFAP221
CFAP221
CUI: C4317124
Disease: Polynesian Bronchiectasis
Polynesian Bronchiectasis 		0.300 GermlineCausalMutation ORPHANET Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia. 31636325

2020
Entrez Id: 200373
Gene Symbol: CFAP221
CFAP221
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.300 GermlineCausalMutation ORPHANET Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia. 31636325

2020
Entrez Id: 2302
Gene Symbol: FOXJ1
FOXJ1
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.510 GermlineCausalMutation ORPHANET De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry. 31630787

2019
Entrez Id: 2302
Gene Symbol: FOXJ1
FOXJ1
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.320 GermlineCausalMutation ORPHANET De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry. 31630787

2019
Entrez Id: 2302
Gene Symbol: FOXJ1
FOXJ1
CUI: C4317124
Disease: Polynesian Bronchiectasis
Polynesian Bronchiectasis 		0.300 GermlineCausalMutation ORPHANET De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry. 31630787

2019
Entrez Id: 2302
Gene Symbol: FOXJ1
FOXJ1
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.300 GermlineCausalMutation ORPHANET De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry. 31630787

2019
Entrez Id: 79925
Gene Symbol: SPEF2
SPEF2
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.320 GermlineCausalMutation ORPHANET Next, we performed IF analyses of SPEF2 in respiratory cells from 189 individuals with suspected PCD and <i>situs solitus</i>. 31545650

2020
Entrez Id: 79925
Gene Symbol: SPEF2
SPEF2
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.310 GermlineCausalMutation ORPHANET <i>SPEF2-</i> and <i>HYDIN</i>-Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics. 31545650

2020
Entrez Id: 79925
Gene Symbol: SPEF2
SPEF2
CUI: C4317124
Disease: Polynesian Bronchiectasis
Polynesian Bronchiectasis 		0.300 GermlineCausalMutation ORPHANET SPEF2- and HYDIN-mutant Cilia Lack the Central Pair Associated Protein SPEF2 Aiding PCD Diagnostics. 31545650

2020
Entrez Id: 79925
Gene Symbol: SPEF2
SPEF2
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.300 GermlineCausalMutation ORPHANET SPEF2- and HYDIN-mutant Cilia Lack the Central Pair Associated Protein SPEF2 Aiding PCD Diagnostics. 31545650

2020
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		0.610 GermlineCausalMutation ORPHANET We compare findings in earlier reported individuals with variants in ITGB4 and PLEC1, and provide a short summary of other entities going along with ACC. 31184804

2019
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		0.410 GermlineCausalMutation ORPHANET We compare findings in earlier reported individuals with variants in ITGB4 and PLEC1, and provide a short summary of other entities going along with ACC. 31184804

2019
Entrez Id: 100996717
Gene Symbol: NOTCH2NLC
NOTCH2NLC
CUI: C1863843
Disease: Neuronal intranuclear inclusion disease
Neuronal intranuclear inclusion disease 		0.530 GermlineCausalMutation ORPHANET Therefore, we suggest defining a term NIID-related disorders (NIIDRD), which will include NIID and other related neurodegenerative diseases caused by the expanded GGC repeat within human-specific NOTCH2NLC. 31178126

2019
Entrez Id: 3782
Gene Symbol: KCNN3
KCNN3
CUI: C0796013
Disease: Zimmerman Laband syndrome
Zimmerman Laband syndrome 		0.510 GermlineCausalMutation ORPHANET Analogous experiments with the KCNN3 p.Val450Leu mutant previously identified in a family with portal hypertension indicated basal constitutive channel activity and thus a different gain-of-function mechanism compared to the ZLS-associated mutant channels. 31155282

2019
Entrez Id: 22800
Gene Symbol: RRAS2
RRAS2
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.620 GermlineCausalMutation ORPHANET Here, we report four de novo RRAS2 variants in three individuals with NS. 31130285

2019
Entrez Id: 1173
Gene Symbol: AP2M1
AP2M1
CUI: C0393702
Disease: Myoclonic Astatic Epilepsy
Myoclonic Astatic Epilepsy 		0.300 GermlineCausalMutation ORPHANET A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. 31104773

2019
Entrez Id: 6572
Gene Symbol: SLC18A3
SLC18A3
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.310 GermlineCausalMutation ORPHANET Our results underline the importance of including SLC18A3 sequencing in the differential diagnostics of fetuses with arthrogryposis, FADS, or LMPS of unknown etiology. 31059209

2019
Entrez Id: 54796
Gene Symbol: BNC2
BNC2
CUI: C0238506
Disease: Congenital posterior urethral valves
Congenital posterior urethral valves 		0.600 GermlineCausalMutation ORPHANET Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction. 31051115

2019
Entrez Id: 80217
Gene Symbol: CFAP43
CFAP43
CUI: C0020258
Disease: Hydrocephalus, Normal Pressure
Hydrocephalus, Normal Pressure 		0.300 GermlineCausalMutation ORPHANET Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities. 31004071

2019
Entrez Id: 2239
Gene Symbol: GPC4
GPC4
CUI: C1850627
Disease: Nasodigitoacoustic syndrome
Nasodigitoacoustic syndrome 		0.410 GermlineCausalMutation ORPHANET Phylogenetic analysis demonstrated that GPC4 is most closely related to GPC6, which is associated with a bone dysplasia that has a phenotypic overlap with Keipert syndrome. 30982611

2019
Entrez Id: 285600
Gene Symbol: KIAA0825
KIAA0825
CUI: C3887487
Disease: Postaxial polydactyly type A
Postaxial polydactyly type A 		0.400 GermlineCausalMutation ORPHANET Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. 30982135

2019
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C1834038
Disease: Schilbach-Rott Syndrome
Schilbach-Rott Syndrome 		0.300 ChromosomalRearrangement ORPHANET Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene. 30936464

2019
Entrez Id: 375748
Gene Symbol: ERCC6L2
ERCC6L2
CUI: C4707228
Disease: Inherited acute myeloid leukemia
Inherited acute myeloid leukemia 		0.300 GermlineCausalMutation ORPHANET ERCC6L2 defines a novel entity within inherited acute myeloid leukemia. 30936069

2019