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+ Genes 563

Genes:
AATF, AATK, ABCA5, ABCA6, ABCA8, ABCA9, ABHD15, ABI3, ABR, ACACA, ACAP1, ACE, ACLY, ACOX1, ACSF2, ACTG1, ADAM11, ADPRM, AIPL1, AKAP1, ALDH3A1, ALOX12, ALOX15B, ALOXE3, AMZ2, ANKFN1, ANKFY1, AOC3, AP2B1, ARHGAP23, ARHGAP27, ARHGEF15, ARRB2, ARSG, ASB16, ASIC2, ASPA, ASPSCR1, ATAD5, ATP1B2, ATP2A3, AURKB, AXIN2, AZI1, B3GNTL1, B4GALNT2, B9D1, BAIAP2, BCAS3, BCL6B, BHLHA9, BIRC5, BRCA1, BRIP1, BZRAP1, C17orf102, C17orf47, C17orf49, C17orf53, C17orf58, C17orf59, C17orf70, C17orf72, C17orf74, C17orf77, C17orf78, C17orf80, C17orf82, C17orf96, C17orf97, C17orf99, C1QTNF1, CACNA1G, CALCOCO2, CAMKK1, CAMTA2, CANT1, CARD14, CASKIN2, CBX2, CCDC137, CCDC144A, CCDC144NL, CCDC40, CCDC57, CCL15, CCL2, CCL23, CCL8, CCR7, CCT6B, CD300E, CD300LB, CD300LD, CD300LF, CD300LG, CD79B, CDC6, CDR2L, CDRT1, CDRT15, CDRT4, CEP112, CHAD, CHRNB1, CLDN7, CLUH, CNP, CNTNAP1, CNTROB, COASY, COG1, COIL, COL1A1, COPRS, COX10, COX11, CSF3, CTB-96E2.2, CTC1, CTDNEP1, CTNS, CXCL16, CYB5D1, DCAF7, DCAKD, DDX52, DGKE, DHRS13, DHX33, DLX3, DNAH17, DNAH2, DNAH9, DNAI2, DOC2B, DPH1, DUS1L, DVL2, EFCAB13, EFCAB5, EFTUD2, EIF4A1, EIF5A, ELAC2, ELP5, EME1, ENDOV, ENGASE, ENO3, ENPP7, ENTHD2, EPN2, EPN3, EPX, ERBB2, ERN1, EVI2A, EVPL, EVPLL, EXOC7, FAM104A, FAM20A, FAM211A, FAM83G, FASN, FBF1, FBXO47, FBXW10, FDXR, FMNL1, FN3K, FN3KRP, FNDC8, FOXK2, FTSJ3, GAA, GALR2, GAS2L2, GAST, GFAP, GGA3, GGNBP2, GGT6, GIP, GIT1, GLP2R, GLTPD2, GOSR2, GPATCH8, GPR142, GPS2, GRB7, GRIN2C, GSDMA, HAP1, HDAC5, HELZ, HES7, HEXDC, HEXIM1, HID1, HIGD1B, HNF1B, HOXB1, HOXB13, HOXB5, HOXB7, HS3ST3B1, HSD17B1, HSF5, ICAM2, ICT1, IFI35, IGFBP4, INPP5K, INTS2, ITGA2B, ITGA3, ITGAE, ITGB3, ITGB4, JUP, KANSL1, KAT7, KCNH6, KCNJ12, KDM6B, KIAA0100, KIAA0195, KIAA0753, KIF19, KIF2B, KLHL10, KLHL11, KPNA2, KRT10, KRT13, KRT14, KRT15, KRT16, KRT17, KRT19, KRT20, KRT23, KRT24, KRT25, KRT26, KRT27, KRT28, KRT32, KRT33A, KRT33B, KRT34, KRT35, KRT36, KRT37, KRT38, KRT39, KRT40, KRT9, KRTAP1-1, KRTAP3-1, KRTAP3-3, KRTAP4-1, KRTAP4-11, KRTAP4-5, KRTAP4-6, KRTAP4-7, KRTAP4-8, KRTAP9-1, KRTAP9-2, KRTAP9-3, KRTAP9-4, KRTAP9-8, KSR1, LASP1, LGALS3BP, LGALS9, LLGL1, LLGL2, LPO, LRRC37A, LRRC37A2, LRRC37B, LRRC48, LSMD1, MAP2K3, MAP2K6, MARCH10, MED13, MED24, MFSD6L, MGAT5B, MIEF2, MIF4GD, MINK1, MLLT6, MLX, MMP28, MNT, MPP2, MPP3, MPRIP, MRC2, MRPL38, MRPS23, MSI2, MTMR4, MYADML2, MYBBP1A, MYCBPAP, MYH1, MYH10, MYH13, MYH2, MYH3, MYH4, MYH8, MYO15A, MYO18A, MYO19, MYO1C, NAGLU, NAGS, NAT9, NBR1, NEK8, NEURL4, NF1, NFE2L1, NLE1, NLGN2, NLRP1, NMT1, NOL11, NOS2, NPLOC4, NPTX1, NSRP1, NT5C, NT5C3B, NUP85, NUP88, ODF4, OGFOD3, OR1A1, OR1A2, OR1D2, OR1D5, OR1E1, OR1E2, OR3A2, OR3A3, OSBPL7, OTOP2, OTOP3, P4HB, PCGF2, PCTP, PDK2, PELP1, PEMT, PER1, PFAS, PGAP3, PGS1, PHF12, PIK3R5, PIK3R6, PIP4K2B, PITPNM3, PLCD3, PLD2, PLXDC1, PNPO, POLDIP2, POLG2, POLR2A, PPP1R9B, PRKCA, PSMB6, PSMC3IP, PSMC5, PSMD3, PTGES3L-AARSD1, PYCR1, PYY, QRICH2, RAB11FIP4, RABEP1, RAI1, RAP1GAP2, RARA, RECQL5, RHBDF2, RHOT1, RNF135, RNF157, RNF213, RNF222, RNF43, RNFT1, RP11-1055B8.7, RPA1, RPRML, RPTOR, RSAD1, RTN4RL1, RUNDC1, SARM1, SAT2, SCARF1, SCN4A, SCRN2, SDK2, SEC14L1, SECTM1, SENP3, SEPT4, SERPINF1, SERPINF2, SEZ6, SGSH, SGSM2, SHPK, SIRT7, SKAP1, SLC13A5, SLC16A13, SLC16A3, SLC16A5, SLC25A10, SLC25A19, SLC2A4, SLC35B1, SLC35G6, SLC38A10, SLC39A11, SLC43A2, SLC46A1, SLC47A2, SLC52A1, SLC5A10, SLC9A3R1, SLFN11, SLFN12, SLFN12L, SLFN13, SLFN14, SLFN5, SMCR8, SMG6, SMTNL2, SMYD4, SNF8, SOX9, SP2, SPATA20, SPATA22, SPATA32, SPECC1, SPHK1, SPNS2, SPNS3, SPOP, SPPL2C, SREBF1, SRP68, SRSF2, STARD3, STAT5A, STRADA, STX8, STXBP4, SUPT6H, SYNGR2, SYNRG, TADA2A, TANC2, TAOK1, TAX1BP3, TBC1D16, TBC1D26, TBC1D28, TBCD, TBX2, TBX21, TCAP, TEKT1, TEKT3, TEX14, TIMP2, TK1, TLCD1, TLCD2, TLK2, TM4SF5, TMC6, TMEM104, TMEM256-PLSCR3, TMEM92, TMEM99, TNFRSF13B, TNFSF12, TNFSF12-TNFSF13, TNK1, TNRC6C, TNS4, TOB1, TRIM16, TRIM25, TRIM37, TRIM47, TRIM65, TRPV1, TRPV2, TRPV3, TSEN54, TSPAN10, TSR1, TTC19, TTLL6, TUBD1, TUBG2, TUSC5, TVP23C, UBALD2, UBE2O, UBE2Z, UBTF, ULK2, UNC13D, UNC45B, UNK, USP22, USP36, USP43, USP6, UTP18, UTS2R, VAT1, VMO1, VTN, WDR16, WDR81, WFIKKN2, WNK4, WNT9B, WRAP53, WSB1, WSCD1, XAF1, XYLT2, ZACN, ZFP3, ZMYND15, ZNF286A, ZNF287, ZNF594, ZNF750, ZNF830, ZZEF1,

+ Genes associated with diseases 124

Genes at Omim

ABCA5, ACACA, ACE, ACOX1, ACTG1, AIPL1, ALOXE3, ARSG, ASPA, ASPSCR1, AXIN2, B9D1, BHLHA9, BRCA1, BRIP1, CACNA1G, CANT1, CARD14, CBX2, CCDC40, CCL2, CD79B, CDC6, CHRNB1, CNTNAP1, COASY, COG1, COL1A1, COX10, CTC1, CTNS, DGKE, DLX3, DNAH9, DNAI2, DPH1, EFTUD2, ELAC2, ENO3, EPX, ERBB2, FAM20A, FDXR, GAA, GFAP, GOSR2, HES7, HNF1B, HOXB1, HOXB13, INPP5K, ITGA2B, ITGA3, ITGB3, ITGB4, JUP, KANSL1, KIAA0753, KLHL10, KRT10, KRT13, KRT14, KRT16, KRT17, KRT25, KRT9, MYH2, MYH3, MYH8, MYO15A, NAGLU, NAGS, NEK8, NF1, NLRP1, NUP85, P4HB, PGAP3, PIK3R5, PITPNM3, PNPO, POLG2, PRKCA, PSMC3IP, PYCR1, QRICH2, RAI1, RARA, RHBDF2, RNF213, RNF43, SCN4A, SERPINF1, SGSH, SHPK, SLC13A5, SLC25A19, SLC46A1, SLC52A1, SLC9A3R1, SLFN14, SOX9, STRADA, TBCD, TBX2, TBX21, TCAP, TEX14, TLK2, TMC6, TNFRSF13B, TRIM37, TRPV3, TSEN54, TTC19, UBTF, UNC13D, UNC45B, WDR81, WNK4, WRAP53, XYLT2, ZMYND15, ZNF750,
ABCA5 ?Hypertrichosis, congenital generalized, with gingival hyperplasia, 135400 (3)
ACACA Acetyl-CoA carboxylase deficiency, 613933 (1)
ACE {Microvascular complications of diabetes 3}, 612624 (3)
{Myocardial infarction, susceptibility to} (3)
{SARS, progression of} (3)
{Stroke, hemorrhagic}, 614519 (3)
Renal tubular dysgenesis, 267430 (3)
[Angiotensin I-converting enzyme, benign serum increase] (3)
ACOX1 Peroxisomal acyl-CoA oxidase deficiency, 264470 (3)
ACTG1 Baraitser-Winter syndrome 2, 614583 (3)
Deafness, autosomal dominant 20/26, 604717 (3)
AIPL1 Cone-rod dystrophy, 604393 (3)
Leber congenital amaurosis 4, 604393 (3)
Retinitis pigmentosa, juvenile, 604393 (3)
ALOXE3 Ichthyosis, congenital, autosomal recessive 3, 606545 (3)
ARSG Usher syndrome, type IV, 618144 (3)
ASPA Canavan disease, 271900 (3)
ASPSCR1 Alveolar soft-part sarcoma, 606243 (3)
AXIN2 Colorectal cancer, somatic, 114500 (3)
Oligodontia-colorectal cancer syndrome, 608615 (3)
B9D1 Joubert syndrome 27, 617120 (3)
?Meckel syndrome 9, 614209 (3)
BHLHA9 ?Camptosynpolydactyly, complex, 607539 (3)
Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432 (3)
BRCA1 Fanconi anemia, complementation group S, 617883 (3)
{Pancreatic cancer, susceptibility to, 4}, 614320 (3)
{Breast-ovarian cancer, familial, 1}, 604370 (3)
BRIP1 Fanconi anemia, complementation group J, 609054 (3)
{Breast cancer, early-onset, susceptibility to}, 114480 (3)
CACNA1G Spinocerebellar ataxia 42, 616795 (3)
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087 (3)
CANT1 Desbuquois dysplasia 1, 251450 (3)
Epiphyseal dysplasia, multiple, 7, 617719 (3)
CARD14 Pityriasis rubra pilaris, 173200 (3)
Psoriasis 2, 602723 (3)
CBX2 ?46XY sex reversal 5, 613080 (3)
CCDC40 Ciliary dyskinesia, primary, 15, 613808 (3)
CCL2 {HIV-1, resistance to}, 609423 (3)
{Mycobacterium tuberculosis, susceptibility to}, 607948 (3)
{Spina bifida, susceptibility to}, 182940 (3)
{Coronary artery disease, modifier of} (3)
CD79B Agammaglobulinemia 6, 612692 (3)
CDC6 ?Meier-Gorlin syndrome 5, 613805 (3)
CHRNB1 Myasthenic syndrome, congenital, 2A, slow-channel, 616313 (3)
?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 (3)
CNTNAP1 Hypomyelinating neuropathy, congenital, 3, 618186 (3)
Lethal congenital contracture syndrome 7, 616286 (3)
COASY Neurodegeneration with brain iron accumulation 6, 615643 (3)
Pontocerebellar hypoplasia, type 12, 618266 (3)
COG1 Congenital disorder of glycosylation, type IIg, 611209 (3)
COL1A1 Caffey disease, 114000 (3)
Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060 (3)
Osteogenesis imperfecta, type I, 166200 (3)
Osteogenesis imperfecta, type II, 166210 (3)
Osteogenesis imperfecta, type III, 259420 (3)
Osteogenesis imperfecta, type IV, 166220 (3)
{Bone mineral density variation QTL, osteoporosis}, 166710 (3)
COX10 Leigh syndrome due to mitochondrial COX4 deficiency, 256000 (3)
Mitochondrial complex IV deficiency, 220110 (3)
CTC1 Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3)
CTNS Cystinosis, atypical nephropathic, 219800 (3)
Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 (3)
Cystinosis, nephropathic, 219800 (3)
Cystinosis, ocular nonnephropathic, 219750 (3)
DGKE {Hemolytic uremic syndrome, atypical, susceptibility to, 7}, 615008 (3)
Nephrotic syndrome, type 7, 615008 (3)
DLX3 Amelogenesis imperfecta, type IV, 104510 (3)
Trichodontoosseous syndrome, 190320 (3)
DNAH9 Ciliary dyskinesia, primary, 40, 618300 (3)
DNAI2 Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3)
DPH1 Developmental delay with short stature, dysmorphic features, and sparse hair, 616901 (3)
EFTUD2 Mandibulofacial dysostosis, Guion-Almeida type, 610536 (3)
ELAC2 Combined oxidative phosphorylation deficiency 17, 615440 (3)
{Prostate cancer, hereditary, 2, susceptibility to}, 614731 (3)
ENO3 ?Glycogen storage disease XIII, 612932 (3)
EPX [Eosinophil peroxidase deficiency], 261500 (3)
ERBB2 Adenocarcinoma of lung, somatic, 211980 (3)
Gastric cancer, somatic, 613659 (3)
Glioblastoma, somatic, 137800 (3)
Ovarian cancer, somatic, (3)
FAM20A Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 (3)
FDXR Auditory neuropathy and optic atrophy, 617717 (3)
GAA Glycogen storage disease II, 232300 (3)
GFAP Alexander disease, 203450 (3)
GOSR2 Epilepsy, progressive myoclonic 6, 614018 (3)
HES7 Spondylocostal dysostosis 4, autosomal recessive, 613686 (3)
HNF1B Diabetes mellitus, noninsulin-dependent, 125853 (3)
{Renal cell carcinoma}, 144700 (3)
Renal cysts and diabetes syndrome, 137920 (3)
HOXB1 Facial paresis, hereditary congenital, 3, 614744 (3)
HOXB13 {Prostate cancer, hereditary, 9}, 610997 (3)
INPP5K Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 (3)
ITGA2B Glanzmann thrombasthenia, 273800 (3)
Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3)
Thrombocytopenia, neonatal alloimmune, BAK antigen related (3)
ITGA3 Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 (3)
ITGB3 Glanzmann thrombasthenia, 273800 (3)
Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3)
{Myocardial infarction, susceptibility to}, 608446 (3)
Purpura, posttransfusion (3)
Thrombocytopenia, neonatal alloimmune (3)
ITGB4 Epidermolysis bullosa of hands and feet, 131800 (3)
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3)
JUP Arrhythmogenic right ventricular dysplasia 12, 611528 (3)
Naxos disease, 601214 (3)
KANSL1 Koolen-De Vries syndrome, 610443 (3)
KIAA0753 ?Orofaciodigital syndrome XV, 617127 (3)
KLHL10 Spermatogenic failure 11, 615081 (3)
KRT10 Ichthyosis with confetti, 609165 (3)
Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3)
Epidermolytic hyperkeratosis, 113800 (3)
KRT13 White sponge nevus 2, 615785 (3)
KRT14 Dermatopathia pigmentosa reticularis, 125595 (3)
Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3)
Epidermolysis bullosa simplex, Koebner type, 131900 (3)
Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3)
Epidermolysis bullosa simplex, recessive 1, 601001 (3)
Naegeli-Franceschetti-Jadassohn syndrome, 161000 (3)
KRT16 Pachyonychia congenita 1, 167200 (3)
Palmoplantar keratoderma, nonepidermolytic, focal, 613000 (3)
KRT17 Pachyonychia congenita 2, 167210 (3)
Steatocystoma multiplex, 184500 (3)
KRT25 Woolly hair, autosomal recessive 3, 616760 (3)
KRT9 Palmoplantar keratoderma, epidermolytic, 144200 (3)
MYH2 Proximal myopathy and ophthalmoplegia, 605637 (3)
MYH3 Arthrogryposis, distal, type 2A, 193700 (3)
Arthrogryposis, distal, type 2B, 601680 (3)
Arthrogryposis, distal, type 8, 178110 (3)
MYH8 Carney complex variant, 608837 (3)
Trismus-pseudocamptodactyly syndrome, 158300 (3)
MYO15A Deafness, autosomal recessive 3, 600316 (3)
NAGLU Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3)
?Charcot-Marie-Tooth disease, axonal, type 2V, 616491 (3)
NAGS N-acetylglutamate synthase deficiency, 237310 (3)
NEK8 Renal-hepatic-pancreatic dysplasia 2, 615415 (3)
?Nephronophthisis 9, 613824 (3)
NF1 Leukemia, juvenile myelomonocytic, 607785 (3)
Neurofibromatosis, familial spinal, 162210 (3)
Neurofibromatosis, type 1, 162200 (3)
Neurofibromatosis-Noonan syndrome, 601321 (3)
Watson syndrome, 193520 (3)
NLRP1 Autoinflammation with arthritis and dyskeratosis, 617388 (3)
{Vitiligo-associated multiple autoimmune disease susceptibility 1}, 606579 (3)
Palmoplantar carcinoma, multiple self-healing, 615225 (3)
NUP85 Nephrotic syndrome, type 17, 618176 (3)
P4HB Cole-Carpenter syndrome 1, 112240 (3)
PGAP3 Hyperphosphatasia with mental retardation syndrome 4, 615716 (3)
PIK3R5 Ataxia-oculomotor apraxia 3, 615217 (3)
PITPNM3 Cone-rod dystrophy 5, 600977 (3)
PNPO Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3)
POLG2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 (3)
PRKCA Pituitary tumor, invasive (3)
PSMC3IP Ovarian dysgenesis 3, 614324 (3)
PYCR1 Cutis laxa, autosomal recessive, type IIB, 612940 (3)
Cutis laxa, autosomal recessive, type IIIB, 614438 (3)
QRICH2 Spermatogenic failure 35, 618341 (3)
RAI1 Smith-Magenis syndrome, 182290 (3)
RARA Leukemia, acute promyelocytic, 612376 (1)
RHBDF2 Tylosis with esophageal cancer, 148500 (3)
RNF213 {Moyamoya disease 2, susceptibility to}, 607151 (3)
RNF43 Sessile serrated polyposis cancer syndrome, 617108 (3)
SCN4A Hyperkalemic periodic paralysis, type 2, 170500 (3)
Hypokalemic periodic paralysis, type 2, 613345 (3)
Myasthenic syndrome, congenital, 16, 614198 (3)
Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3)
Paramyotonia congenita, 168300 (3)
SERPINF1 Osteogenesis imperfecta, type VI, 613982 (3)
SGSH Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900 (3)
SHPK [Sedoheptulokinase deficiency], 617213 (3)
SLC13A5 Epileptic encephalopathy, early infantile, 25, 615905 (3)
SLC25A19 Microcephaly, Amish type, 607196 (3)
Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (3)
SLC46A1 Folate malabsorption, hereditary, 229050 (3)
SLC52A1 Riboflavin deficiency, 615026 (3)
SLC9A3R1 Nephrolithiasis/osteoporosis, hypophosphatemic, 2, 612287 (3)
SLFN14 Bleeding disorder, platelet-type, 20, 616913 (3)
SOX9 Campomelic dysplasia with autosomal sex reversal, 114290 (3)
Campomelic dysplasia, 114290 (3)
Acampomelic campomelic dysplasia, 114290 (3)
STRADA Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (3)
TBCD Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3)
TBX2 Vertebral anomalies and variable endocrine and T-cell dysfunction, 618223 (3)
TBX21 Asthma and nasal polyps, 208550 (3)
{Asthma, aspirin-induced, susceptibility to}, 208550 (3)
TCAP Cardiomyopathy, hypertrophic, 25, 607487 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 7, 601954 (3)
TEX14 ?Spermatogenic failure 23, 617707 (3)
TLK2 Mental retardation, autosomal dominant 57, 618050 (3)
TMC6 Epidermodysplasia verruciformis, 226400 (3)
TNFRSF13B Immunodeficiency, common variable, 2, 240500 (3)
Immunoglobulin A deficiency 2, 609529 (3)
TRIM37 Mulibrey nanism, 253250 (3)
TRPV3 Olmsted syndrome, 614594 (3)
?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400 (3)
TSEN54 Pontocerebellar hypoplasia type 2A, 277470 (3)
Pontocerebellar hypoplasia type 4, 225753 (3)
?Pontocerebellar hypoplasia type 5, 610204 (3)
TTC19 Mitochondrial complex III deficiency, nuclear type 2, 615157 (3)
UBTF Neurodegeneration, childhood-onset, with brain atrophy, 617672 (3)
UNC13D Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)
UNC45B ?Cataract 43, 616279 (3)
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)
Hydrocephalus, congenital, 3, with brain anomalies, 617967 (3)
WNK4 Pseudohypoaldosteronism, type IIB, 614491 (3)
WRAP53 Dyskeratosis congenita, autosomal recessive 3, 613988 (3)
XYLT2 {Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3)
Spondyloocular syndrome, 605822 (3)
ZMYND15 ?Spermatogenic failure 14, 615842 (3)
ZNF750 Seborrhea-like dermatitis with psoriasiform elements, 610227 (3)

Genes at Clinical Genomics Database

ABCA5, ACE, ACOX1, ACTG1, AIPL1, ALOXE3, ASPA, AXIN2, B9D1, BHLHA9, BRCA1, BRIP1, CACNA1G, CANT1, CARD14, CBX2, CCDC137, CCDC40, CD79B, CDC6, CHRNB1, CNTNAP1, COASY, COG1, COL1A1, COX10, CTC1, CTNS, DGKE, DLX3, DNAI2, DPH1, EFTUD2, ELAC2, ENO3, EPX, FAM20A, GAA, GFAP, GOSR2, HES7, HNF1B, HOXB1, ITGA2B, ITGA3, ITGB3, ITGB4, JUP, KANSL1, KLHL10, KRT10, KRT13, KRT14, KRT16, KRT17, KRT25, KRT9, MYH2, MYH3, MYH8, MYO15A, NAGLU, NAGS, NEK8, NF1, NLRP1, P4HB, PGAP3, PIK3R5, PITPNM3, PNPO, POLG2, PSMC3IP, PYCR1, RAI1, RHBDF2, RNF135, RNF213, SCN4A, SERPINF1, SERPINF2, SGSH, SLC13A5, SLC25A19, SLC46A1, SLC52A1, SLC9A3R1, SLFN14, SOX9, STRADA, TCAP, TMC6, TNFRSF13B, TRIM37, TRPV3, TSEN54, TTC19, UNC13D, UNC45B, WDR81, WNK4, WRAP53, ZMYND15, ZNF750,
ABCA5 Hypertrichosis terminalis, generalized, with or without gingival hyperplasia
ACE Renal tubular dysgenesis
ACE serum levels
ACOX1 Peroxisomal acyl-CoA oxidase deficiency
ACTG1 Deafness, autosomal dominant 20
Baraitser-Winter syndrome 2
AIPL1 Leber congenital amaurosis 4
Retinitis pigmentosa, juvenile, AIPL1-related
Cone-rod dystrophy, AIPL1-related
ALOXE3 Ichthyosiform erythroderma, congenital, nonbullous, 1
ASPA Aspartoacylase deficiency (Canavan disease)
AXIN2 Oligodontia-colorectal cancer syndrome
B9D1 Meckel syndrome 9
BHLHA9 Syndactyly, mesoaxial synostotic, with phalangeal reduction
BRCA1 Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
BRIP1 Breast cancer
Fanconi anemia, complementation group J
CACNA1G Spinocerebellar ataxia 42
CANT1 Desbuquois dysplasia 1
CARD14 Psoriasis 2
CBX2 46,XY sex reversal 5
CCDC137 Schizophrenia
CCDC40 Ciliary dyskinesia, primary, 15
CD79B Agammaglobulinemia 6
CDC6 Meier-Gorlin syndrome 5
CHRNB1 Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
Myasthenic syndrome, slow-channel congenital, 2A
CNTNAP1 Lethal congenital contracture syndrome 7
COASY Neurodegeneration with brain iron accumulation 6
COG1 Congenital disorder of glycosylation, type IIg
COL1A1 Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type VII, autosomal dominant
COX10 Mitochondrial complex IV deficiency
Leigh syndrome
CTC1 Cerebroretinal microangiopathy with calcifications and cysts
CTNS Cystinosis
DGKE Nephrotic syndrome, type 7
DLX3 Trichodontoosseous syndrome
Amelogenesis imperfecta, type IV
DNAI2 Ciliary dyskinesia, primary, 9
DPH1 Developmental delay with short stature, dysmorphic features, and sparse hair
EFTUD2 Mandibulofacial dysostosis, Guion-Almeida type
Esophageal atresia, syndromic
ELAC2 Combined oxidative phosphorylation deficiency 17
ENO3 Glycogen storage disease XIII
EPX Eosinophil peroxidase deficiency
FAM20A Amelogenesis imperfecta, type IG (Enamel-renal syndrome)
GAA Glycogen storage disease II
GFAP Alexander disease
GOSR2 Epilepsy, progessive myoclonic 6
HES7 Spondylocostal dysostosis 4, autosomal recessive
HNF1B Renal cell carcinoma, nonpapillary chromophobe
HOXB1 Facial paresis, hereditary congenital, 3
ITGA2B Glanzmann thrombasthenia
ITGA3 Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
ITGB3 Bleeding disorder, platelet-type, 16, autosomal dominant
Glanzmann thrombasthenia
Thrombocytopenia, neonatal alloimmune
ITGB4 Epidermolysis bullosa, junctional, with pyloric atresia
Epidermolysis bullosa, junctional, non-Herlitz type
Epidermolysis bullosa simplex, Weber-Cockayne type
JUP Arrhythmogenic right ventricular dysplasia, familial, 12
Naxos disease
KANSL1 Koolen-de Vries syndrom
KLHL10 Spermatogenic failure 11
KRT10 Erythroderma, ichthyosiform, congenital reticular
Aaru disease
Ichthyosis, cyclic, with epidermolytic hyperkeratosis
Epidermolytic hyperkeratosis
Ichthyosis with confetti
KRT13 White sponge nevus 2
KRT14 Epidermolysis bullosa simplex, autosomal recessive
Naegeli-Franceschetti-Jadassohn syndrome
Dermatopathia pigmentosa reticularis
Epidermolysis bullosa simplex, Koebner type
Epidermolysis bullosa simplex, Weber-Cockayne type
Epidermolysis bullosa simplex, Dowling-Meara type
KRT16 Palmoplantar keratoderma, nonepidermolytic, focal
Pachyonychia congenita 1
KRT17 Steatocystoma multiplex
Pachyonychia congenita 2
KRT25 Woolly hair, autosomal recessive 3
KRT9 Palmoplantar keratoderma, epidermolytic
Knuckle pads
MYH2 Inclusion body myopathy 3
MYH3 Arthrogryposis, distal, type 2A
Arthyrgryposis, distal, type 2B
Arthrogryposis, distal, type 8
MYH8 Carney complex variant
Arthrogryposis, distal, type 7
Trismus-pseudocamptodactyly syndrome
MYO15A Deafness, autosomal recessive 3
NAGLU Mucopolysaccharidosis type IIIB (Sanfilippo syndrome B)
NAGS N-acetylglutamate synthase deficiency
NEK8 Nephronophthisis 9
NF1 Neurofibromatosis type 1, Neurofibromatosis-Noonan syndrome
Watson syndrome
NLRP1 Corneal intraepithelial dyskeratosis and ectodermal dysplasia
P4HB Cole Carpenter syndrome 1
PGAP3 Hyperphosphatasia with mental retardation syndrome 4
PIK3R5 Ataxia-oculomotor apraxia 3
PITPNM3 Cone-rod dystrophy 5
PNPO Individuals may manifest with severe seizures starting in the immediate neonatal period (or even before birth), and medical treatment (with pyridoxine) can be effective as an antiepileptic agent
POLG2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
PSMC3IP Ovarian dysgenesis 3
PYCR1 Cutis laxa, autosomal recessive, type IIB
Cutis laxa, autosomal recessive type IIIB
RAI1 Smith-Magenis syndrome
RHBDF2 Tylosis with esophageal cancer
RNF135 Macrocephaly, macrosomia, facial dysmorphism syndrome
RNF213 Moyamoya disease 2
SCN4A Paramyotonia congenita
Hyperkalemic periodic paralysis, type 2
Hypokalemic periodic paralysis, type 2
Normokalemic potassium-sensitive periodic paralysis
Malignant hyperthermia, susceptibility to
Myasthenic syndrome, congenital, 16
Myotonia, potassium-aggravated
SERPINF1 Osteogenesis imperfecta, type VI
SERPINF2 Alpha-2-plasmin inhibitor deficiency
SGSH Mucopolysaccharidosis type IIIA (Sanfilippo syndrome A)
SLC13A5 Epileptic encephalopathy, early infantile 25
SLC25A19 Thiamine metabolism dysfunction syndrome 4
Microcephaly, Amish type
SLC46A1 Folate malabsorption, hereditary
SLC52A1 Maternal riboflavin deficiency
SLC9A3R1 Nephrolithiasis/osteoporosis, hypophosphatemic, 2
SLFN14 Bleeding disorder, platelet-type, 20
SOX9 46, XY sex reversal 10
Campomelic dysplasia
STRADA Polyhydramnios, megalencephaly, and symptomatic epilepsy
TCAP Cardiomyopathy, dilated, 1N
Cardiomyopathy, familial hypertrophic 25
Muscular dystrophy, limb-girdle, type 2G
TMC6 Epidermodysplasia verruciformis
TNFRSF13B Immunoglobulin A deficiency 2
Common variable immunodeficiency 2
TRIM37 Mulibrey nanism
TRPV3 Olmsted syndrome
Palmoplantar keratoderma, nonepidermolytic focal 2
TSEN54 Pontocerebellar hypoplasia, type 2A
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 5
TTC19 Mitochondrial complex III deficiency, nuclear type 2
UNC13D Hemophagocytic lymphohistiocytosis, familial 3
UNC45B Cataract 43
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
WNK4 Pseudohypoaldosteronism, type IIB
WRAP53 Dyskeratosis congenita, autosomal recessive 3
ZMYND15 Spermatogenic failure 14
ZNF750 Seborrhea-like dermatitis with psoriasiform elements

Genes at HGMD

Summary

Number of Variants: 2417
Number of Genes: 563

Export to: CSV

B9D1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 19246736 142.057 AGAG A PASS 0/1 76 None None None None None None None None None B9D1|0.081015319|54.99%

MPP2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 41960633 338.934 CG GC PASS 1/1 36 NON_SYNONYMOUS_CODING MODERATE None None None None None None None MPP2|0.089091994|53.42%

KRTAP4-11
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 39274087 84.7677 G C PASS 0/1 99 NON_SYNONYMOUS_CODING MODERATE None 0.28 0.00 None None None None None None KRTAP4-11|0.005077297|85.71%

TMEM99
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 38991052 103.898 TT GA PASS 0/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.88 None None None None None None TMEM99|0.001180048|94.57%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 11827112 222.113 GC AA PASS 0/1 106 None None None None None None None None None DNAH9|0.176098085|39.51%

KRTAP4-7
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 39240794 91.5329 CA AT PASS 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.03375 0.03375 0.07334 None None None None None None KRTAP4-7|0.005884004|84.72%

NAGS
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 42083940 16.0774 G A PASS 0/1 6 NON_SYNONYMOUS_CODING MODERATE None 0.05 0.00 None None None None None None NAGS|0.068521411|57.83%

PER1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 8046598 29.4764 G T PASS 0/1 13 NON_SYNONYMOUS_CODING MODERATE None 0.15 0.98 None None None None None None PER1|0.435705544|18.91%

C17orf74
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 7330170 78.3703 C G PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.97 None None None None None None C17orf74|0.006445905|84.13%

HES7
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 8025303 16.4562 G T PASS 0/1 5 SYNONYMOUS_CODING LOW None None None None None None None HES7|0.398848582|20.85%

DDX52
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 36002189 21.7914 G T PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.50 0.00 None None None None None None DDX52|0.446354586|18.34%

SDK2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 71334813 149.877 TG T,TT PASS 1/2 35 FRAME_SHIFT HIGH None None None None None None None SDK2|0.207253642|35.88%

NOL11
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 65735072 18.5434 T C PASS 0/1 23 SYNONYMOUS_CODING LOW None None None None None None None NOL11|0.149207772|43.11%

KRT14
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 39742898 637.192 GC AT PASS 1/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.29 0.00 None None None None None None KRT14|0.6870623|8.91%

GGNBP2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 34942586 414.88 AA... AA... PASS 1/2 63 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None GGNBP2|0.62459578|10.96%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 4686340 940.425 TT GG PASS 1/1 101 None None None None None None None None None TM4SF5|0.019893464|74.24%
View sp16_961 17 . 39553803 22.7469 G A PASS 0/1 8 None None None None None None None None None KRT31|0.188589309|38%

DNAH17
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 76491127 1538.41 TG CC PASS 1/1 161 NON_SYNONYMOUS_CODING MODERATE None None None None None None None DNAH17|0.043900967|64.55%,DNAH17-AS1|0.00115894|94.66%

KRT33A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 39505658 31.0056 T G PASS 0/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.72 None None None None None None KRT33A|0.099548288|51.24%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 43908094 139.983 C T PASS 0/1 77 None None None None None None None None None CRHR1|0.843169419|4.8%
View sp16_961 17 . 38633986 31.4593 T G PASS 0/1 13 None None None None None None None None None TNS4|0.101266983|50.92%

RARA
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 38512423 30.8754 GC CG,G PASS 0/2 17 FRAME_SHIFT HIGH None None None None None None None RARA|0.985801545|1.25%

KRTAP9-1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 39346297 16.2595 C T PASS 0/1 14 SYNONYMOUS_CODING LOW None None None None None None None KRTAP9-1|0.001839367|91.43%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 10532881 523.055 TGGG TG... PASS 1/2 97 None None None None None None None None None MYH3|0.17766559|39.35%
View sp16_961 17 . 76430313 41.4703 A G PASS 0/1 9 None None None None None None None None None DNAH17|0.043900967|64.55%
View sp16_961 17 . 39580790 56.2147 G A PASS 0/1 25 None None None None None None None None None None

KRTAP4-1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 39340852 69.4327 G GA PASS 1/1 14 FRAME_SHIFT HIGH None None None None None None None KRTAP4-1|0.01050289|80.51%

UBALD2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 74266548 17.3984 C T PASS 0/1 13 STOP_GAINED HIGH None None None None None None None UBALD2|0.102798794|50.64%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 73736569 81.9841 C A PASS 0/1 37 None None None None None None None None None ITGB4|0.346553835|24.38%

KRT32
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 39619093 234.428 GT AC PASS 0/1 71 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None KRT32|0.027899063|70.47%

NUP88
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 5292280 86.4054 T G PASS 0/1 43 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.10 0.99 None None None None None None NUP88|0.126682329|46.39%

KRT10
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 38975900 18.7021 C T PASS 0/1 17 SYNONYMOUS_CODING LOW None None None None None None None KRT10|0.085711046|54%,TMEM99|0.001180048|94.57%

WNK4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 40946915 36.376 G C PASS 0/1 17 NON_SYNONYMOUS_CODING MODERATE None 0.20 0.00 None None None None None None WNK4|0.059442979|60.06%

ERN1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 62144217 23.4276 A G PASS 0/1 29 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.22 None None None None None None ERN1|0.1172536|47.89%

PCTP
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 53828538 63.2817 T C PASS 0/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.11 0.05 None None None None None None PCTP|0.029626145|69.57%

KCNJ12
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 21318951 1296.7 CA CG,TG PASS 0/1 415 NON_SYNONYMOUS_CODING MODERATE None None None None None None None KCNJ12|0.437556296|18.82%
View sp16_961 17 . 21319007 1232.75 GG AC,GC PASS 0/1 405 NON_SYNONYMOUS_CODING MODERATE None 0.24 0.00 None None None None None None KCNJ12|0.437556296|18.82%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 20796694 62.5093 A G PASS 0/1 31 None None None 0.10982 0.11863 None None None None None None CCDC144NL|0.000779475|96.79%
View sp16_961 17 . 60501454 50.0 G GC... PASS 0/1 100 None None None None None None None None None METTL2A|0.045575367|64.02%

KANSL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 44248848 27.5932 G A PASS 0/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.06050 0.11195 0.04 0.81 None None None None None None KANSL1|0.49245936|16.23%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 59996742 265.196 A T PASS 0/1 97 None None None None None None None None None INTS2|0.626536147|10.9%

KCNH6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 61622475 61.2933 C T PASS 0/1 22 SYNONYMOUS_CODING LOW None None None None None None None KCNH6|0.100663491|51.04%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 30791502 345.78 TC... TT... PASS 1/1 38 None None None None None None None None None PSMD11|0.870267094|4.19%
View sp16_961 17 . 1438733 113.358 A G PASS 0/1 66 None None None None None None None None None PITPNA|0.679913203|9.09%

KANSL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 44248499 76.7814 G C PASS 0/1 90 SYNONYMOUS_CODING LOW None 0.19109 0.12379 None None None None None None KANSL1|0.49245936|16.23%

FMNL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 43318778 1837.75 GC CG PASS 1/1 222 NON_SYNONYMOUS_CODING MODERATE None None None None None None None FMNL1|0.056263942|60.84%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 43226472 115.194 CT... CT... PASS 0/1 43 None None None None None None None None None HEXIM1|0.092899261|52.63%

MYCBPAP
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 48585922 304.695 CG... CG... PASS 1/2 42 FRAME_SHIFT HIGH None None None None None None None MYCBPAP|0.009182852|81.53%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 78010345 35.5771 C A PASS 0/1 39 None None None None None None None None None None
View sp16_961 17 . 62025245 16.8985 C G PASS 0/1 47 None None None None None None None None None SCN4A|0.296782735|27.91%
View sp16_961 17 . 26696946 22.8873 A G PASS 0/1 79 None None None None None None None None None TMEM199|0.152249989|42.63%,VTN|0.304771105|27.29%,SARM1|0.349245398|24.19%

MPRIP
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 17039561 133.901 CC... CC... PASS 1/1 18 None None None None None None None None None MPRIP|0.147447625|43.4%
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 21204315 376.54 TG CA PASS 0/1 145 None None None None None None None None None MAP2K3|0.4379498|18.79%
View sp16_961 17 . 42849733 18.2698 C G PASS 0/1 10 None None None None None None None None None ADAM11|0.131633893|45.66%

PHF12
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 27254009 34.0087 CT C PASS 0/1 30 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None None PHF12|0.775533624|6.42%
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 . 3419689 839.862 CA CG,TG PASS 1/2 90 None None None None None None None None None TRPV3|0.223871602|33.97%
View sp16_961 17 . 42397706 23.0285 G A PASS 0/1 47 None None None None None None None None None SLC25A39|0.067005166|58.15%
View sp16_961 17 . 3719384 84.8929 C T PASS 0/1 84 None None None None None None None None None C17orf85|0.397822761|20.91%
View sp16_961 17 . 76558137 272.169 G A PASS 0/1 138 None None None None None None None None None DNAH17|0.043900967|64.55%
View sp16_961 17 . 32965275 197.218 AC... AC... PASS 0/3 64 None None None None None None None None None TMEM132E|0.12551241|46.56%
View sp16_961 17 . 8656420 18.6233 A G PASS 0/1 12 None None None None None None None None None None
View sp16_961 17 rs1002446
dbSNP Clinvar 		66424923 447.307 C T PASS 1/1 47 None None None 0.20807 0.20810 0.25742 None None None None None None WIPI1|0.110004792|49.2%
View sp16_961 17 rs1003398
dbSNP Clinvar 		2598627 243.174 T C PASS 1/1 26 None None None 0.98463 0.98460 0.02099 None None None None None None CLUH|0.266743031|30.14%
View sp16_961 17 rs1003399
dbSNP Clinvar 		2598639 32.5842 C G PASS 0/1 26 None None None 0.46985 0.46980 0.48521 None None None None None None CLUH|0.266743031|30.14%

CCL23
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs1003645
dbSNP Clinvar 		34340284 152.084 C T PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.52077 0.52080 0.39405 1.00 0.00 None None None None None None CCL23|0.000246136|99.63%

KRT36
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs1003842
dbSNP Clinvar 		39646021 380.078 A G PASS 1/1 43 SYNONYMOUS_CODING LOW None 0.76757 0.76760 0.26888 None None None None None None KRT36|0.094725552|52.2%
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs1007086
dbSNP Clinvar 		48271433 987.964 A G PASS 1/1 101 None None None 0.57588 0.57590 0.36014 None None None None None None COL1A1|0.749779298|7.09%
View sp16_961 17 rs1008177
dbSNP Clinvar 		73751990 488.268 T A PASS 1/1 52 None None None 0.37979 0.37980 None None None None None None ITGB4|0.346553835|24.38%,GALK1|0.289083483|28.42%
View sp16_961 17 rs1008753
dbSNP Clinvar 		39724047 639.746 T C PASS 1/1 67 None None None 0.66613 0.66610 0.47768 None None None None None None KRT9|0.008117817|82.53%
View sp16_961 17 rs1009727
dbSNP Clinvar 		38609187 134.39 G A PASS 0/1 61 None None None 0.33606 0.33610 0.27826 None None None None None None IGFBP4|0.415961517|19.8%
View sp16_961 17 rs1009728
dbSNP Clinvar 		38609207 139.966 T C PASS 0/1 62 None None None 0.34365 0.34370 0.28679 None None None None None None IGFBP4|0.415961517|19.8%
View sp16_961 17 rs1010442
dbSNP Clinvar 		71192955 265.187 C T PASS 0/1 97 None None None 0.52396 0.52400 None None None None None None COG1|0.033535253|67.93%
View sp16_961 17 rs1010954
dbSNP Clinvar 		79817005 200.183 G A PASS 0/1 90 None None None 0.13898 0.13900 0.18940 None None None None None None P4HB|0.313096195|26.61%
View sp16_961 17 rs1015098
dbSNP Clinvar 		64001925 739.199 G A PASS 1/1 78 None None None 0.00040 0.53630 0.36178 None None None None None None CEP112|0.36305341|23.21%
View sp16_961 17 rs10153291
dbSNP Clinvar 		3833740 115.842 G A PASS 0/1 53 None None None 0.12979 0.12980 0.18171 None None None None None None ATP2A3|0.0615045|59.44%

HSF5
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs1017089
dbSNP Clinvar 		56544280 723.895 T G PASS 1/1 76 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00023 1.00 0.00 None None None None None None HSF5|0.426751439|19.28%
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs1019152
dbSNP Clinvar 		30659006 292.029 T A PASS 1/1 30 None None None 0.82129 0.82130 0.18050 None None None None None None C17orf75|0.301738162|27.52%

COG1
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs1026128
dbSNP Clinvar 		71196809 268.74 A G PASS 0/1 113 NON_SYNONYMOUS_CODING MODERATE None 0.52097 0.52100 0.46786 1.00 0.00 None None None None None None COG1|0.033535253|67.93%

FBXW10
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs1026259
dbSNP Clinvar 		18681913 20.8225 G A PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.08726 0.08726 0.08608 0.42 0.11 None None None None None None FBXW10|0.006929798|83.58%

CALCOCO2
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs10278
dbSNP Clinvar 		46939658 53.8244 C G PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.31339 0.50 0.01 None None None None None None CALCOCO2|0.090951981|53.05%
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs1029665
dbSNP Clinvar 		10364191 192.081 T C PASS 0/1 121 None None None 0.53634 0.53630 0.39789 None None None None None None MYH4|0.262019908|30.56%
View sp16_961 17 rs1030055
dbSNP Clinvar 		11459012 1481.88 G C PASS 1/1 155 None None None 0.77436 0.77440 0.33618 None None None None None None SHISA6|0.222934228|34.08%

COG1
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs1037256
dbSNP Clinvar 		71197748 324.368 G A PASS 0/1 114 SYNONYMOUS_CODING LOW None 0.52536 0.52540 0.46494 None None None None None None COG1|0.033535253|67.93%

TRPV3
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs1039519
dbSNP Clinvar 		3447914 116.449 C T PASS 0/1 45 SYNONYMOUS_CODING LOW None 0.66254 0.66250 0.41381 None None None None None None TRPV3|0.223871602|33.97%

MYH2
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs1042236
dbSNP Clinvar 		10427924 391.203 G A PASS 0/1 197 SYNONYMOUS_CODING LOW None 0.31889 0.31890 0.14224 None None None None None None MYH2|0.48729541|16.45%

ALOX12
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs1042356
dbSNP Clinvar 		6902743 65.0628 G A PASS 0/1 46 SYNONYMOUS_CODING LOW None 0.60184 0.60180 0.39466 None None None None None None ALOX12|0.072773622|56.83%
View sp16_961 17 rs1042357
dbSNP Clinvar 		6905061 235.212 T G PASS 0/1 170 SYNONYMOUS_CODING LOW None 0.57228 0.57230 0.42734 None None None None None None ALOX12|0.072773622|56.83%

GAA
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs1042393
dbSNP Clinvar 		78079597 484.866 A G PASS 1/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.60084 0.60080 0.32746 0.99 0.00 None None None None None None GAA|0.017886334|75.35%
View sp16_961 17 rs1042395
dbSNP Clinvar 		78079669 481.161 G A PASS 1/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.60244 0.60240 0.32759 0.27 0.01 None None None None None None GAA|0.017886334|75.35%
View sp16_961 17 rs1042397
dbSNP Clinvar 		78092063 45.6996 G A PASS 0/1 14 SYNONYMOUS_CODING LOW None 0.50939 0.50940 0.39520 None None None None None None GAA|0.017886334|75.35%

CCDC137
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs10438817
dbSNP Clinvar 		79637349 555.783 T C PASS 1/1 58 SYNONYMOUS_CODING LOW None 0.98722 0.98720 0.03026 None None None None None None CCDC137|0.006950118|83.55%

ICT1
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs1044228
dbSNP Clinvar 		73016621 245.234 C T PASS 0/1 86 SYNONYMOUS_CODING LOW None 0.31989 0.31990 0.32001 None None None None None None ICT1|0.286219874|28.64%

HEXIM1
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs1044977
dbSNP Clinvar 		43227214 108.022 T C PASS 0/1 100 SYNONYMOUS_CODING LOW None 0.19868 0.19870 0.18684 None None None None None None HEXIM1|0.092899261|52.63%

SYNRG
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs1045000
dbSNP Clinvar 		35896123 197.033 T C PASS 0/1 139 SYNONYMOUS_CODING LOW None 0.23443 0.23440 0.21513 None None None None None None SYNRG|0.309565847|26.86%

AATF
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs1045056
dbSNP Clinvar 		35346641 121.892 T C PASS 0/1 54 SYNONYMOUS_CODING LOW None 0.15675 0.15670 0.24273 None None None None None None AATF|0.980408321|1.45%

ARRB2
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs1045280
dbSNP Clinvar 		4622638 265.137 C T PASS 0/1 87 SYNONYMOUS_CODING LOW None 0.66953 0.66950 0.40051 None None None None None None ARRB2|0.726219786|7.8%
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs10454087
dbSNP Clinvar 		40735641 620.23 C T PASS 1/1 66 None None None 0.32448 0.32450 0.24781 None None None None None None FAM134C|0.298305797|27.78%

TUBG2
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs1046097
dbSNP Clinvar 		40818699 1614.58 A G PASS 1/1 168 NON_SYNONYMOUS_CODING MODERATE None 0.47784 0.47780 0.47540 0.54 0.00 None None None None None None TUBG2|0.298957112|27.7%
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs10462024
dbSNP Clinvar 		8051639 238.031 A G PASS 0/1 96 None None None 0.29992 0.29990 0.35764 None None None None None None PER1|0.435705544|18.91%

NT5C3B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs1046403
dbSNP Clinvar 		39983820 1269.62 G A PASS 1/1 137 NON_SYNONYMOUS_CODING MODERATE None 0.78614 0.78610 0.23943 0.49 0.00 None None None None None None NT5C3B|0.071842185|57.03%