GeneAssociated phenotypesInheritanceClinVarHGMD
ARHGEF1Idiopathic bronchiectasis, Immunodeficiencies with antibody defectsAR1
C11ORF70Primary ciliary dyskinesiaAR5
CCDC39Ciliary dyskinesiaAR3947
CCDC40Ciliary dyskinesiaAR3343
CFTRCystic fibrosis, Congenital bilateral absence of the vas deferensAD/AR5181803
DNAAF1Ciliary dyskinesiaAR1938
DNAAF2Ciliary dyskinesiaAR136
DNAH11*Ciliary dyskinesiaAR66130
DNAH5Ciliary dyskinesiaAR140197
DNAH9Primary ciliary dyskinesiaAR6
DNAI1Ciliary dyskinesiaAR1735
DNAI2Ciliary dyskinesiaAR196
DNAL1Ciliary dyskinesiaAR31
GAS2L2Primary ciliary dyskinesiaAR3
MCIDASPrimary ciliary dyskinesiaAR43
NME8Ciliary dyskinesiaAR16
POLD1Colorectal cancer, Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, Idiopathic bronchiectasis, ImmunodeficiencyAD/AR331
RSPH4ACiliary dyskinesiaAR1824
RSPH9Ciliary dyskinesiaAR812
SCNN1APseudohypoaldosteronism, Bronchiectasis with or without elevated sweat chlorideAD/AR1044
SCNN1BLiddle syndrome, Pseudohypoaldosteronism, Bronchiectasis with or without elevated sweat chlorideAD/AR1947
STK36Primary ciliary dyskinesiaAR5
GeneAssociated phenotypesInheritanceClinVarHGMD
CHATMyasthenic syndrome, congenitalAR2473
CHRNA1Myasthenic syndrome, congenitalAD/AR2835
CHRNB1Myasthenic syndromeAD/AR1111
CHRNDMyasthenic syndromeAD/AR1826
CHRNEMyasthenic syndromeAD/AR48134
COLQMyasthenic syndrome, congenitalAR2367
EDN3Hirschsprung disease, Central hypoventilation syndrome, congenital, Waardenburg syndromeAD/AR721
GLRA1HyperekplexiaAD/AR3969
MECP2Angelman-like syndrome, Autism, Rett syndrome, Encephalopathy, Mental retardationXL5061039
PHOX2BCentral hypoventilation syndrome, congenital, Neuroblastoma, susceptiblity to, Neuroblastoma with Hirschsprung diseaseAD1186
RAPSNMyasthenic syndrome, congenitalAR2658
RETHirschsprung disease, Central hypoventilation syndrome, congenital, Pheochromocytoma, Medullary thyroid carcinoma, Multiple endocrine neoplasiaAD/AR122407
SCN4AHyperkalemic periodic paralysis, Myotonia, potassium-aggravated, Paramyotonia congenita, Myasthenic syndrome, congenital, Normokalemic potassium-sensitive periodic paralysisAD/AR57126
SLC6A5HyperekplexiaAR1533
ZEB2*Mowat-Wilson syndromeAD154287
GeneAssociated phenotypesInheritanceClinVarHGMD
ABCA3Interstitial lung disease, Surfactant metabolism dysfunction, pulmonaryAD/AR11287
ARHGEF1Idiopathic bronchiectasis, Immunodeficiencies with antibody defectsAR1
C11ORF70Primary ciliary dyskinesiaAR5
CCDC39Ciliary dyskinesiaAR3947
CCDC40Ciliary dyskinesiaAR3343
CFTRCystic fibrosis, Congenital bilateral absence of the vas deferensAD/AR5181803
CHATMyasthenic syndrome, congenitalAR2473
CHRNA1Myasthenic syndrome, congenitalAD/AR2835
CHRNB1Myasthenic syndromeAD/AR1111
CHRNDMyasthenic syndromeAD/AR1826
CHRNEMyasthenic syndromeAD/AR48134
COLQMyasthenic syndrome, congenitalAR2367
CSF2RA#*Surfactant metabolism dysfunction, pulmonaryXL217
CSF2RBSurfactant metabolism dysfunction, pulmonary, 5AR26
DKC1Hoyeraal-Hreidarsson syndrome, Dyskeratosis congenitaXL4874
DNAAF1Ciliary dyskinesiaAR1938
DNAAF2Ciliary dyskinesiaAR136
DNAH1Spermatogenic failure 18AR1532
DNAH11*Ciliary dyskinesiaAR66130
DNAH5Ciliary dyskinesiaAR140197
DNAH9Primary ciliary dyskinesiaAR6
DNAI1Ciliary dyskinesiaAR1735
DNAI2Ciliary dyskinesiaAR196
DNAL1Ciliary dyskinesiaAR31
EDN3Hirschsprung disease, Central hypoventilation syndrome, congenital, Waardenburg syndromeAD/AR721
EFEMP2Cutis laxaAR1416
ELMOD2Familial idiopathic pulmonary fibrosisAD/AR
ELNCutis laxa, Supravalvular aortic stenosisAD78113
FAM111B*Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis, Lung cancer, familial, susceptibilty toAD77
FBLN5Cutis laxa, Macular degeneration, age-relatedAD/AR1322
FLCNBirt-Hogg-Dube syndrome, Pneumothorax, primary spontaneousAD154210
FOXF1Alveolar capillary dysplasia with misalignment of pulmonary veinsAD10102
GAS2L2Primary ciliary dyskinesiaAR3
GAS8Ciliary dyskinesia, primary, 33AR46
GLRA1HyperekplexiaAD/AR3969
HPS1*Hermansky-Pudlak syndromeAR2855
HPS4Hermansky-Pudlak syndromeAR1622
ITGA3Interstitial lung disease with nephrotic syndrome and epidermolysis bullosaAR611
LTBP4Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalitiesAR1017
MCIDASPrimary ciliary dyskinesiaAR43
MECP2Angelman-like syndrome, Autism, Rett syndrome, Encephalopathy, Mental retardationXL5061039
MT-ATP6Neuropathy, ataxia, and retinitis pigmentosa, Leber hereditary optic neuropathy, Ataxia and polyneuropathy, adult-onset, Cardiomyopathy, infantile hypertrophic, Leigh syndrome, Striatonigral degeneration, infantile, mitochondrialMitochondrial19
MT-ATP8Cardiomyopathy, apical hypertrophic, and neuropathy, Cardiomyopathy, infantile hypertrophicMitochondrial4
MT-CO1Myoglobinuria, recurrent, Leber hereditary optic neuropathy, Sideroblastic anemia, Cytochrome C oxidase deficiencyMitochondrial17
MT-CO2Cytochrome c oxidase deficiencyMitochondrial8
MT-CO3Cytochrome c oxidase deficiency, Leber hereditary optic neuropathyMitochondrial9
MT-CYBLeber hereditary optic neuropathyMitochondrial69
MT-ND1Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Leber optic atrophy and dystoniaMitochondrial21
MT-ND2Leber hereditary optic neuropathy, Mitochondrial complex I deficiencyMitochondrial6
MT-ND3Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial7
MT-ND4Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial11
MT-ND4LLeber hereditary optic neuropathyMitochondrial2
MT-ND5Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Mitochondrial complex I deficiencyMitochondrial19
MT-ND6Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Oncocytoma, Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial16
MT-RNR1Deafness, mitochondrialMitochondrial3
MT-RNR2Chloramphenicol toxicity/resistanceMitochondrial2
MT-TALeber hereditary optic neuropathy, Mitochondrial multisystemic disorder, Progressive external ophthalmoplegia, Dilated cardiomyopathy (DCM)Mitochondrial4
MT-TCMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial3
MT-TDMitochondrial multisystemic disorderMitochondrial1
MT-TEDiabetes-deafness syndrome, Mitochondrial myopathy, infantile, transient, Mitochondrial myopathy with diabetesMitochondrial5
MT-TFMyoclonic epilepsy with ragged red fibers, Nephropathy, tubulointerstitial, Encephalopathy, mitochondrial, Epilepsy, mitochondrial, Myopathy, mitochondrial, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial7
MT-TGHypertrophic cardiomyopathy, Encephalopathy, MyopathyMitochondrial3
MT-THMitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial4
MT-TIProgressive external ophthalmoplegiaMitochondrial7
MT-TKMyoclonic epilepsy with ragged red fibersMitochondrial5
MT-TL1Cytochrome c oxidase deficiency, Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Diabetes-deafness syndrome, Cyclic vomiting syndrome, SIDS, susceptibility toMitochondrial14
MT-TL2Progressive external ophthalmoplegia, Mitochondrial multisystemic disorderMitochondrial5
MT-TMMitochondrial Myopathy, Leigh syndrome, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial1
MT-TNProgressive external ophthalmoplegiaMitochondrial3
MT-TPMitochondrial multisystemic disorderMitochondrial2
MT-TQMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, EncephalopathyMitochondrial2
MT-TRDilated cardiomyopathy (DCM)Mitochondrial2
MT-TS1Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial10
MT-TS2Mitochondrial multisystemic disorderMitochondrial2
MT-TTMitochondrial5
MT-TVMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial3
MT-TWLeigh syndrome, Mitochondrial MyopathyMitochondrial8
MT-TYMitochondrial4
NAF1AD2
NF1*Watson syndrome, Neurofibromatosis, Neurofibromatosis-Noonan syndromeAD11572901
NKX2-1Thyroid cancer, nonmedullary, Choreoathetosis, hypothyroidism, and neonatal respiratory distress, Chorea, hereditary benignAD27137
NME8Ciliary dyskinesiaAR16
PARN*Pulmonary fibrosis and/or bone marrow failure, Dyskeratosis congenitaAD/AR1529
PHOX2BCentral hypoventilation syndrome, congenital, Neuroblastoma, susceptiblity to, Neuroblastoma with Hirschsprung diseaseAD1186
PIH1D3Ciliary dyskinesia, primary, 36XL212
POLD1Colorectal cancer, Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, Idiopathic bronchiectasis, ImmunodeficiencyAD/AR331
RAPSNMyasthenic syndrome, congenitalAR2658
RETHirschsprung disease, Central hypoventilation syndrome, congenital, Pheochromocytoma, Medullary thyroid carcinoma, Multiple endocrine neoplasiaAD/AR122407
RSPH3Ciliary dyskinesia, primary, 32AR75
RSPH4ACiliary dyskinesiaAR1824
RSPH9Ciliary dyskinesiaAR812
RTEL1Pulmonary fibrosis and/or bone marrow failure, Dyskeratosis congenitaAD/AR5851
SCN4AHyperkalemic periodic paralysis, Myotonia, potassium-aggravated, Paramyotonia congenita, Myasthenic syndrome, congenital, Normokalemic potassium-sensitive periodic paralysisAD/AR57126
SCNN1APseudohypoaldosteronism, Bronchiectasis with or without elevated sweat chlorideAD/AR1044
SCNN1BLiddle syndrome, Pseudohypoaldosteronism, Bronchiectasis with or without elevated sweat chlorideAD/AR1947
SERPINA1Alpha-1-antitrypsin deficiencyAR4980
SFTPA1Idiopathic pulmonary fibrosisAD2
SFTPA2Pulmonary fibrosis, idiopathicAD25
SFTPBSurfactant metabolism dysfunction, pulmonaryAR528
SFTPCSurfactant metabolism dysfunction, pulmonaryAD882
SLC34A2Pulmonary alveolar microlithiasisAR519
SLC6A5HyperekplexiaAR1533
SLC7A7Lysinuric protein intoleranceAR5567
SMPD1Niemann-Pick diseaseAR110249
STAT3Hyper-IgE recurrent infection syndrome, Autoimmune disease, multisystem, infantile onsetAD47152
STK36Primary ciliary dyskinesiaAR5
STRA6Microphthalmia, syndromic, Microphthalmia, isolated, with colobomaAR2233
TERCAplastic anemia, Pulmonary fibrosis and/or bone marrow failure, telomere-related, Dyskeratosis congenitaAD4273
TERTAplastic anemia, Pulmonary fibrosis and/or bone marrow failure, telomere-related, Dyskeratosis congenitaAD/AR48156
TINF2Revesz syndrome, Dyskeratosis congenitaAD2542
TMEM173STING-associated vasculopathy, infantile-onsent (SAVI)AD410
TSC1Lymphangioleiomyomatosis, Tuberous sclerosisAD177372
TSC2Lymphangioleiomyomatosis, Tuberous sclerosisAD3961195
ZEB2*Mowat-Wilson syndromeAD154287
GeneAssociated phenotypesInheritanceClinVarHGMD
CFTRCystic fibrosis, Congenital bilateral absence of the vas deferensAD/AR5181803
GeneAssociated phenotypesInheritanceClinVarHGMD
EFEMP2Cutis laxaAR1416
ELNCutis laxa, Supravalvular aortic stenosisAD78113
FBLN5Cutis laxa, Macular degeneration, age-relatedAD/AR1322
FLCNBirt-Hogg-Dube syndrome, Pneumothorax, primary spontaneousAD154210
LTBP4Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalitiesAR1017
SERPINA1Alpha-1-antitrypsin deficiencyAR4980
TSC1Lymphangioleiomyomatosis, Tuberous sclerosisAD177372
TSC2Lymphangioleiomyomatosis, Tuberous sclerosisAD3961195
GeneAssociated phenotypesInheritanceClinVarHGMD
ABCA3Interstitial lung disease, Surfactant metabolism dysfunction, pulmonaryAD/AR11287
AP3B1Hermansky-Pudlak syndromeAR1434
AP3D1Hermansky-Pudlak syndrome 10AR14
BLOC1S3Hermansky-Pudlak syndromeAR24
BLOC1S6Hermansky-Pudlak syndromeAR12
DKC1Hoyeraal-Hreidarsson syndrome, Dyskeratosis congenitaXL4874
DTNBP1Hermansky-Pudlak syndromeAR23
GPR143Nystagmus, congenital, Ocular albinismXL22181
HPS1*Hermansky-Pudlak syndromeAR2855
HPS3Hermansky-Pudlak syndromeAR1017
HPS4Hermansky-Pudlak syndromeAR1622
HPS5Hermansky-Pudlak syndromeAR2031
HPS6Hermansky-Pudlak syndromeAR1337
LYSTChediak-Higashi syndromeAR5097
OCA2Albinism, brown oculocutaneous, Albinism, oculocutaneous, Skin/hair/eye pigmentationAR43310
SFTPBSurfactant metabolism dysfunction, pulmonaryAR528
SFTPCSurfactant metabolism dysfunction, pulmonaryAD882
SLC45A2Skin/hair/eye pigmentation, Oculocutaneous albinismAD/AR16156
TERCAplastic anemia, Pulmonary fibrosis and/or bone marrow failure, telomere-related, Dyskeratosis congenitaAD4273
TERTAplastic anemia, Pulmonary fibrosis and/or bone marrow failure, telomere-related, Dyskeratosis congenitaAD/AR48156
TINF2Revesz syndrome, Dyskeratosis congenitaAD2542
TYR*Albinism, oculocutaneousAR77441
TYRP1Albinism, oculocutaneousAR1055
GeneAssociated phenotypesInheritanceClinVarHGMD
ABCA3Interstitial lung disease, Surfactant metabolism dysfunction, pulmonaryAD/AR11287
CSF2RA#*Surfactant metabolism dysfunction, pulmonaryXL217
CSF2RBSurfactant metabolism dysfunction, pulmonary, 5AR26
DKC1Hoyeraal-Hreidarsson syndrome, Dyskeratosis congenitaXL4874
ELMOD2Familial idiopathic pulmonary fibrosisAD/AR
FAM111B*Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis, Lung cancer, familial, susceptibilty toAD77
FOXF1Alveolar capillary dysplasia with misalignment of pulmonary veinsAD10102
HPS1*Hermansky-Pudlak syndromeAR2855
HPS4Hermansky-Pudlak syndromeAR1622
ITGA3Interstitial lung disease with nephrotic syndrome and epidermolysis bullosaAR611
NAF1AD2
NF1*Watson syndrome, Neurofibromatosis, Neurofibromatosis-Noonan syndromeAD11572901
NKX2-1Thyroid cancer, nonmedullary, Choreoathetosis, hypothyroidism, and neonatal respiratory distress, Chorea, hereditary benignAD27137
PARN*Pulmonary fibrosis and/or bone marrow failure, Dyskeratosis congenitaAD/AR1529
RTEL1Pulmonary fibrosis and/or bone marrow failure, Dyskeratosis congenitaAD/AR5851
SFTPA1Idiopathic pulmonary fibrosisAD2
SFTPA2Pulmonary fibrosis, idiopathicAD25
SFTPBSurfactant metabolism dysfunction, pulmonaryAR528
SFTPCSurfactant metabolism dysfunction, pulmonaryAD882
SLC34A2Pulmonary alveolar microlithiasisAR519
SLC7A7Lysinuric protein intoleranceAR5567
SMPD1Niemann-Pick diseaseAR110249
STAT3Hyper-IgE recurrent infection syndrome, Autoimmune disease, multisystem, infantile onsetAD47152
STRA6Microphthalmia, syndromic, Microphthalmia, isolated, with colobomaAR2233
TERCAplastic anemia, Pulmonary fibrosis and/or bone marrow failure, telomere-related, Dyskeratosis congenitaAD4273
TERTAplastic anemia, Pulmonary fibrosis and/or bone marrow failure, telomere-related, Dyskeratosis congenitaAD/AR48156
TINF2Revesz syndrome, Dyskeratosis congenitaAD2542
TMEM173STING-associated vasculopathy, infantile-onsent (SAVI)AD410
TSC1Lymphangioleiomyomatosis, Tuberous sclerosisAD177372
TSC2Lymphangioleiomyomatosis, Tuberous sclerosisAD3961195
GeneAssociated phenotypesInheritanceClinVarHGMD
ABCA3Interstitial lung disease, Surfactant metabolism dysfunction, pulmonaryAD/AR11287
FOXF1Alveolar capillary dysplasia with misalignment of pulmonary veinsAD10102
NKX2-1Thyroid cancer, nonmedullary, Choreoathetosis, hypothyroidism, and neonatal respiratory distress, Chorea, hereditary benignAD27137
SFTPBSurfactant metabolism dysfunction, pulmonaryAR528
SFTPCSurfactant metabolism dysfunction, pulmonaryAD882
GeneAssociated phenotypesInheritanceClinVarHGMD
ARMC4#*Ciliary dyskinesiaAR1817
C11ORF70Primary ciliary dyskinesiaAR5
C21ORF59Ciliary dyskinesiaAR54
CCDC103Ciliary dyskinesiaAR45
CCDC114Ciliary dyskinesiaAR98
CCDC39Ciliary dyskinesiaAR3947
CCDC40Ciliary dyskinesiaAR3343
CCDC65Ciliary dyskinesiaAR22
CCNOCiliary dyskinesiaAR1110
CENPFCiliary dyskinesia -Lethal CiliopathyAR138
CFTRCystic fibrosis, Congenital bilateral absence of the vas deferensAD/AR5181803
DNAAF1Ciliary dyskinesiaAR1938
DNAAF2Ciliary dyskinesiaAR136
DNAAF3Primary ciliary dyskinesiaAD/AR115
DNAAF5Ciliary dyskinesiaAR95
DNAH1Spermatogenic failure 18AR1532
DNAH11*Ciliary dyskinesiaAR66130
DNAH5Ciliary dyskinesiaAR140197
DNAH9Primary ciliary dyskinesiaAR6
DNAI1Ciliary dyskinesiaAR1735
DNAI2Ciliary dyskinesiaAR196
DNAL1Ciliary dyskinesiaAR31
DRC1Primary ciliary dyskinesiaAD/AR53
DYX1C1Ciliary dyskinesiaAR1512
GAS2L2Primary ciliary dyskinesiaAR3
GAS8Ciliary dyskinesia, primary, 33AR46
HYDIN#*Primary ciliary dyskinesiaAD/AR525
INVSNephronophthisisAR1634
LRRC6Ciliary dyskinesiaAR1019
MCIDASPrimary ciliary dyskinesiaAR43
NME8Ciliary dyskinesiaAR16
OFD1Simpson-Golabi-Behmel syndrome, Retinitis pigmentosa, Orofaciodigital syndrome, Joubert syndromeXL153160
PIH1D3Ciliary dyskinesia, primary, 36XL212
RPGRRetinitis pigmentosa, Cone-rod dystrophy, X-linked, 1, Macular degeneration, X-linked atrophic, Retinitis pigmentosa 3XL79218
RSPH1Ciliary dyskinesiaAR1410
RSPH3Ciliary dyskinesia, primary, 32AR75
RSPH4ACiliary dyskinesiaAR1824
RSPH9Ciliary dyskinesiaAR812
SPAG1Primary ciliary dyskinesiaAR1811
STK36Primary ciliary dyskinesiaAR5
ZMYND10Ciliary dyskinesiaAR816
GeneAssociated phenotypesInheritanceClinVarHGMD
ABCC8Hyperinsulinemic hypoglycemia, Diabetes, permanent neonatal, Hypoglycemia, leucine-induced, Diabetes mellitus, transient neonatal, Pulmonary arterial hypertension (PAH)AD/AR170641
ACVRL1Hereditary hemorrhagic telangiectasiaAD140430
AQP1Pulmonary arterial hypertension (PAH)AD15
ATP13A3Pulmonary arterial hypertension (PAH)AD211
BMPR1BAcromesomelic dysplasia, Demirhan, Brachydactyly C/Symphalangism-like pheno, Brachydactyly type A2, Pulmonary arterial hypertension (PAH)AD/AR1223
BMPR2Pulmonary hypertension, primary, Pulmonary venoocclusive diseaseAD391572
CAV1Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome, Lipodystrophy, congenital generalized, Pulmonary hypertension, primary 3AD/AR711
EIF2AK4Pulmonary venoocclusive diseaseAR2784
ENGJuvenile polyposis syndrome, Hereditary hemorrhagic telangiectasiaAD158491
FOXF1Alveolar capillary dysplasia with misalignment of pulmonary veinsAD10102
GDF2Hereditary hemorrhagic telangiectasia, type 5, Pulmonary arterial hypertension (PAH)AD317
KCNA5Atrial fibrillationAD425
KCNK3Pulmonary artery hypertensionAD722
KLF2Pulmonary arterial hypertension (PAH)AD1
NFU1Multiple mitochondrial dysfunctions syndrome 1AR615
NOTCH3Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), Lateral meningocele syndromeAD87364
RASA1Parkes Weber syndrome, Capillary malformation-arteriovenous malformation, Spinal arteriovenous anomaliesAD55132
SARS2Hyperuricemia, pulmonary hypertension, renal failure, and alkalosisAR65
SMAD4Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Polyposis, juvenile intestinal, Myhre dysplasia, Hereditary hemorrhagic telangiectasiaAD179143
SMAD9Pulmonary hypertension, primary 2AD417
SOX17Pulmonary arterial hypertension (PAH)AD211
STRA6Microphthalmia, syndromic, Microphthalmia, isolated, with colobomaAR2233
TBX4Small patella syndromeAD858