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: 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: 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: 200373
Gene Symbol: CFAP221
CFAP221
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: 79925
Gene Symbol: SPEF2
SPEF2
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: 284119
Gene Symbol: CAVIN1
CAVIN1
CUI: C0011859
Disease: Lipoatrophic Diabetes Mellitus
Lipoatrophic Diabetes Mellitus
0.300 GermlineCausalMutation ORPHANET Bone Density in Patients With Berardinelli-Seip Congenital Lipodystrophy Is Higher in Trabecular Sites and in Type 2 Patients. 27894728

2019

Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C0018036
Disease: Hypertension, Goldblatt
Hypertension, Goldblatt
0.300 GermlineCausalMutation ORPHANET Hypomorphic mutations of TRIP11 cause odontochondrodysplasia. 30728324

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: 246176
Gene Symbol: GAS2L2
GAS2L2
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome
0.300 GermlineCausalMutation ORPHANET A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification. 30649222

2019

Entrez Id: 6601
Gene Symbol: SMARCC2
SMARCC2
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome
0.300 GermlineCausalMutation ORPHANET Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. 30580808

2019

Entrez Id: 6659
Gene Symbol: SOX4
SOX4
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome
0.300 GermlineCausalMutation ORPHANET Extremely Low Prevalence of Takotsubo Cardiomyopathy and Transient Cardiac Dysfunction in Stroke Patients With T-wave Abnormalities. 30661722

2019

Entrez Id: 10486
Gene Symbol: CAP2
CAP2
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
0.300 GermlineCausalMutation ORPHANET CAP2 mutation leads to impaired actin dynamics and associates with supraventricular tachycardia and dilated cardiomyopathy. 30518548

2019

Entrez Id: 57462
Gene Symbol: MYORG
MYORG
CUI: C0393590
Disease: Fahr's syndrome (disorder)
Fahr's syndrome (disorder)
0.300 GermlineCausalMutation ORPHANET A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification. 30649222

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: 4761
Gene Symbol: NEUROD2
NEUROD2
Early infantile epileptic encephalopathy with suppression bursts
0.300 GermlineCausalMutation ORPHANET De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy. 30323019

2019

Entrez Id: 84957
Gene Symbol: RELT
RELT
Amelogenesis imperfecta local hypoplastic form
0.300 GermlineCausalMutation ORPHANET Mutations in RELT cause autosomal recessive amelogenesis imperfecta. 30506946

2019

Entrez Id: 171568
Gene Symbol: POLR3H
POLR3H
CUI: C0685837
Disease: Pure Gonadal Dysgenesis, 46, XX
Pure Gonadal Dysgenesis, 46, XX
0.300 GermlineCausalMutation ORPHANET Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency. 30830215

2019

Entrez Id: 55229
Gene Symbol: PANK4
PANK4
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract
0.300 GermlineCausalMutation ORPHANET A novel mutation of PANK4 causes autosomal dominant congenital posterior cataract. 30585370

2019

Entrez Id: 171568
Gene Symbol: POLR3H
POLR3H
CUI: C0949595
Disease: Gonadal Dysgenesis, 46,XX
Gonadal Dysgenesis, 46,XX
0.300 GermlineCausalMutation ORPHANET Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency. 30830215

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: 9361
Gene Symbol: LONP1
LONP1
Pyruvate Dehydrogenase E1 Alpha Deficiency
0.300 GermlineCausalMutation ORPHANET Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy. 30304514

2019

Entrez Id: 56999
Gene Symbol: ADAMTS9
ADAMTS9
CUI: C1855681
Disease: Nephronophthisis, familial juvenile
Nephronophthisis, familial juvenile
0.300 GermlineCausalMutation ORPHANET Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy. 30609407

2019

Entrez Id: 9555
Gene Symbol: MACROH2A1
MACROH2A1
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly
0.300 GermlineCausalMutation ORPHANET H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome. 30711920

2019

Entrez Id: 54885
Gene Symbol: TBC1D8B
TBC1D8B
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
0.300 GermlineCausalMutation ORPHANET TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways. 30661770

2019

Entrez Id: 64065
Gene Symbol: PERP
PERP
CUI: C2609071
Disease: Olmsted syndrome
Olmsted syndrome
0.300 GermlineCausalMutation ORPHANET Mutations in PERP Cause Dominant and Recessive Keratoderma. 30321533

2019

Entrez Id: 317662
Gene Symbol: FAM149B1
FAM149B1
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI
0.300 GermlineCausalMutation ORPHANET Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans. 30905400

2019