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+ Genes 642

Genes:
AATF, AATK, ABCA5, ABCA6, ABCA8, ABCA9, ABCC3, ABHD15, ABI3, ABR, AC005544.1, AC040977.1, AC061992.1, AC087645.1, AC090616.2, AC102948.2, AC129492.6, ACACA, ACADVL, ACBD4, ACE, ACLY, ACOX1, ACSF2, ACTG1, ADAM11, ADPRM, AIPL1, AKAP1, AKAP10, ALDH3A1, ALOX12, ALOX15, ALOX15B, ALOXE3, ANKFN1, ANKFY1, AOC3, AP2B1, APOH, ARHGAP23, ARHGAP27, ARHGEF15, ARRB2, ARSG, ASB16, ASGR2, ASIC2, ASPA, ATAD5, ATP1B2, AURKB, AXIN2, AZI1, B3GNTL1, B4GALNT2, B9D1, BAIAP2, BCAS3, BCL6B, BIRC5, BLMH, BRIP1, BZRAP1, C17orf100, C17orf102, C17orf103, C17orf49, C17orf50, C17orf53, C17orf58, C17orf59, C17orf64, C17orf66, C17orf70, C17orf72, C17orf74, C17orf77, C17orf78, C17orf80, C17orf82, C17orf96, C17orf97, C17orf99, C1QTNF1, CA10, CACNA1G, CACNG4, CACNG5, CAMKK1, CAMTA2, CARD14, CASKIN2, CBX2, CBX8, CCDC137, CCDC144A, CCDC144NL, CCDC182, CCDC40, CCDC57, CCL11, CCL15, CCL23, CCL3, CCL4, CCT6B, CD300A, CD300E, CD300LB, CD300LD, CD300LF, CD300LG, CD79B, CDC27, CDK5RAP3, CDR2L, CDRT1, CDRT15, CDRT4, CENPV, CEP112, CHAD, CHD3, CHMP6, CHRNB1, CISD3, CLDN7, CLEC10A, CLTC, CLUH, CNTNAP1, CNTROB, COASY, COIL, COL1A1, COPRS, COPS3, COPZ2, COX10, COX11, CRHR1, CRK, CRLF3, CSH1, CSHL1, CTC1, CTDNEP1, CTNS, CUEDC1, CXCL16, CYB5D1, DCAF7, DCAKD, DDX42, DDX52, DGKE, DHRS7C, DHX33, DHX58, DLG4, DLX3, DNAH17, DNAH17-AS1, DNAH2, DNAH9, DNAI2, DOC2B, DPH1, DRG2, DUS1L, DUSP14, DVL2, EFCAB13, EFCAB5, EFTUD2, EIF4A1, EIF5A, ELP5, EME1, ENDOV, ENGASE, ENO3, ENPP7, ENTHD2, EPN2, EPN3, EPX, ERAL1, ERBB2, ERN1, EVI2A, EVPL, EVPLL, FADS6, FAM117A, FAM20A, FAM211A, FAM57A, FAM64A, FAM83G, FASN, FBF1, FBXO47, FBXW10, FMNL1, FN3K, FN3KRP, FNDC8, FOXK2, FTSJ3, GAA, GAS2L2, GAS7, GAST, GEMIN4, GFAP, GGA3, GGNBP2, GGT6, GID4, GIP, GIT1, GJD3, GLTPD2, GOSR2, GP1BA, GPATCH8, GPR142, GPR179, GPS2, GRB7, GRIN2C, GRN, GSDMA, GSG2, GUCY2D, H3F3B, HAP1, HDAC5, HELZ, HIC1, HID1, HIGD1B, HOXB1, HOXB3, HOXB5, HOXB7, HS3ST3B1, HSD17B1, HSF5, HSPB9, ICT1, IFI35, IGFBP4, INTS2, ITGA2B, ITGA3, ITGAE, ITGB3, ITGB4, JUP, KANSL1, KAT7, KCNH6, KCNJ12, KCNJ16, KDM6B, KIAA0195, KIAA0753, KIF18B, KIF19, KIF1C, KIF2B, KLHL10, KLHL11, KPNA2, KRT10, KRT12, KRT13, KRT14, KRT15, KRT17, KRT19, KRT20, KRT23, KRT24, KRT25, KRT27, KRT28, KRT32, KRT33A, KRT34, KRT35, KRT36, KRT37, KRT38, KRT40, KRTAP1-1, KRTAP1-3, KRTAP1-4, KRTAP16-1, KRTAP17-1, KRTAP2-2, KRTAP29-1, KRTAP3-1, KRTAP3-2, KRTAP3-3, KRTAP4-1, KRTAP4-11, KRTAP4-16P, KRTAP4-2, KRTAP4-3, KRTAP4-5, KRTAP4-6, KRTAP4-7, KRTAP4-8, KRTAP4-9, KRTAP9-1, KRTAP9-2, KRTAP9-3, KRTAP9-4, KRTAP9-6, KRTAP9-8, KSR1, LASP1, LEPREL4, LGALS3BP, LGALS9B, LGALS9C, LIG3, LLGL1, LLGL2, LRRC37A, LRRC37A2, LRRC37A3, LRRC3C, LRRC48, LRRC59, LUC7L3, LYZL6, MAP2K3, MAPT, MARCH10, MED1, MED13, MEOX1, METTL2A, MFSD6L, MGAT5B, MIEF2, MILR1, MINK1, MIS12, MKS1, MLLT6, MLX, MMP28, MNT, MPO, MPP2, MPP3, MPRIP, MRC2, MRPL10, MRPL38, MRPS7, MXRA7, MYADML2, MYBBP1A, MYCBPAP, MYH1, MYH10, MYH13, MYH3, MYH8, MYO15A, MYO15B, MYO19, MYO1C, MYOCD, NAGLU, NAT9, NBR1, NCOR1, NDEL1, NEURL4, NF1, NLE1, NLGN2, NLRP1, NMT1, NOS2, NPLOC4, NPTX1, NSF, NSRP1, NT5C, NT5C3B, NTN1, NUFIP2, NUP85, NUP88, ODF4, OGFOD3, OR1A1, OR1A2, OR1D5, OR1E1, OR1E2, OR3A1, OR3A3, OR4D2, OSBPL7, OTOP2, OTOP3, P2RX5, PCGF2, PCTP, PDK2, PELP1, PEMT, PER1, PFAS, PFN1, PGAP3, PGS1, PHF12, PIK3R6, PIP4K2B, PITPNA, PITPNM3, PLCD3, PLD2, PLEKHH3, PLEKHM1, PMP22, PNMT, POLDIP2, POLR2A, PPM1E, PPP1R1B, PPP1R9B, PRKCA, PRPF8, PRPSAP2, PSMB6, PSMC5, PSMD12, PTGES3L-AARSD1, PYCR1, PYY, QRICH2, RAB11FIP4, RABEP1, RAI1, RAP1GAP2, RDM1, RECQL5, RGS9, RHBDF2, RNF167, RNF213, RNF222, RNF43, RNFT1, RNMTL1, RP11-1055B8.7, RP11-1407O15.2, RP11-385D13.1, RP11-477N12.3, RP11-51L5.7, RP11-676J12.7, RPA1, RPH3AL, RPRML, RPTOR, RSAD1, RTN4RL1, RUNDC1, RUNDC3A, SARM1, SAT2, SCARF1, SCIMP, SCN4A, SCRN2, SDK2, SEC14L1, SECTM1, SENP3, SEPT9, SERPINF1, SERPINF2, SGSM2, SHMT1, SHPK, SIRT7, SKAP1, SLC16A13, SLC16A3, SLC16A5, SLC25A19, SLC25A39, SLC2A4, SLC35G6, SLC38A10, SLC39A11, SLC43A2, SLC46A1, SLC47A2, SLC4A1, SLC52A1, SLC5A10, SLC9A3R1, SLFN11, SLFN12, SLFN12L, SLFN13, SLFN14, SMCR8, SMG6, SMG8, SMTNL2, SMURF2, SMYD4, SNF8, SOX9, SP2, SPATA20, SPATA22, SPATA32, SPECC1, SPHK1, SPNS2, SPNS3, SPPL2C, SRCIN1, SREBF1, SRSF2, SSH2, ST6GALNAC2, STARD3, STH, STX8, STXBP4, SUPT6H, SYNRG, TADA2A, TAOK1, TAX1BP3, TBC1D16, TBC1D26, TBC1D3, TBC1D3C, TBC1D3G, TBC1D3H, TBCD, TBKBP1, TBX2, TBX21, TBX4, TCAP, TEKT1, TEKT3, TEN1, TEX14, TEX2, TIMM22, TK1, TLCD2, TLK2, TM4SF5, TMC6, TMC8, TMEM104, TMEM107, TMEM132E, TMEM235, TMEM256-PLSCR3, TMEM92, TMEM99, TNFRSF13B, TNFSF12, TNFSF12-TNFSF13, TNK1, TNRC6C, TNS4, TOB1, TOP3A, TP53, TRIM25, TRIM47, TRIM65, TRPV1, TRPV3, TSEN54, TSPAN10, TSR1, TTC19, TTLL6, TUBD1, TUBG1, TUBG2, TUSC5, TVP23B, TVP23C, UBALD2, UBE2O, UBE2Z, ULK2, UNC13D, UNK, USP22, USP36, USP43, USP6, UTP18, UTS2R, VMO1, VPS53, VTN, WDR16, WDR81, WFIKKN2, WIPI1, WNT9B, WSB1, WSCD1, XAF1, XYLT2, YBX2, ZACN, ZMYND15, ZNF207, ZNF286A, ZNF286B, ZNF594, ZNF624, ZNF750, ZNF830, ZZEF1,

+ Genes associated with diseases 128

Genes at Omim

ABCA5, ACACA, ACADVL, ACE, ACOX1, ACTG1, AIPL1, AKAP10, ALOXE3, ARSG, ASPA, AXIN2, B9D1, BRIP1, CACNA1G, CARD14, CBX2, CCDC40, CCL11, CCL3, CD79B, CHD3, CHRNB1, CLTC, CNTNAP1, COASY, COL1A1, COX10, CSH1, CTC1, CTNS, DGKE, DLX3, DNAH9, DNAI2, DPH1, EFTUD2, ENO3, EPX, ERAL1, ERBB2, FAM20A, GAA, GEMIN4, GFAP, GOSR2, GP1BA, GPR179, GRN, GUCY2D, HOXB1, ITGA2B, ITGA3, ITGB3, ITGB4, JUP, KANSL1, KIAA0753, KIF1C, KLHL10, KRT10, KRT12, KRT13, KRT14, KRT17, KRT25, MAPT, MEOX1, MKS1, MPO, MRPS7, MYH3, MYH8, MYO15A, NAGLU, NF1, NLRP1, NTN1, NUP85, PFN1, PGAP3, PITPNM3, PLEKHM1, PMP22, PRKCA, PRPF8, PSMD12, PYCR1, QRICH2, RAI1, RGS9, RHBDF2, RNF213, RNF43, SCN4A, SEPT9, SERPINF1, SHPK, SLC25A19, SLC46A1, SLC4A1, SLC52A1, SLC9A3R1, SLFN14, SOX9, TBCD, TBX2, TBX21, TBX4, TCAP, TEX14, TLK2, TMC6, TMC8, TMEM107, TNFRSF13B, TOP3A, TP53, TRPV3, TSEN54, TTC19, TUBG1, UNC13D, VPS53, WDR81, XYLT2, ZMYND15, ZNF750,
ABCA5 ?Hypertrichosis, congenital generalized, with gingival hyperplasia, 135400 (3)
ACACA Acetyl-CoA carboxylase deficiency, 613933 (1)
ACADVL VLCAD deficiency, 201475 (3)
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)
AKAP10 {Cardiac conduction defect, susceptibility to}, 115080 (3)
ALOXE3 Ichthyosis, congenital, autosomal recessive 3, 606545 (3)
ARSG Usher syndrome, type IV, 618144 (3)
ASPA Canavan disease, 271900 (3)
AXIN2 Colorectal cancer, somatic, 114500 (3)
Oligodontia-colorectal cancer syndrome, 608615 (3)
B9D1 Joubert syndrome 27, 617120 (3)
?Meckel syndrome 9, 614209 (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)
CARD14 Pityriasis rubra pilaris, 173200 (3)
Psoriasis 2, 602723 (3)
CBX2 ?46XY sex reversal 5, 613080 (3)
CCDC40 Ciliary dyskinesia, primary, 15, 613808 (3)
CCL11 {HIV1, resistance to}, 609423 (3)
{Asthma, susceptibility to}, 600807 (3)
CCL3 {HIV infection, resistance to}, 609423 (2)
CD79B Agammaglobulinemia 6, 612692 (3)
CHD3 Snijders Blok-Campeau syndrome, 618205 (3)
CHRNB1 Myasthenic syndrome, congenital, 2A, slow-channel, 616313 (3)
?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 (3)
CLTC Mental retardation, autosomal dominant 56, 617854 (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)
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)
CSH1 [Placental lactogen deficiency] (1)
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)
ENO3 ?Glycogen storage disease XIII, 612932 (3)
EPX [Eosinophil peroxidase deficiency], 261500 (3)
ERAL1 Perrault syndrome 6, 617565 (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)
GAA Glycogen storage disease II, 232300 (3)
GEMIN4 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913 (3)
GFAP Alexander disease, 203450 (3)
GOSR2 Epilepsy, progressive myoclonic 6, 614018 (3)
GP1BA Bernard-Soulier syndrome, type A1 (recessive), 231200 (3)
Bernard-Soulier syndrome, type A2 (dominant), 153670 (3)
{Nonarteritic anterior ischemic optic neuropathy, susceptibility to}, 258660 (3)
von Willebrand disease, platelet-type, 177820 (3)
GPR179 Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (3)
GRN Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 (3)
Aphasia, primary progressive, 607485 (3)
Ceroid lipofuscinosis, neuronal, 11, 614706 (3)
GUCY2D Cone-rod dystrophy 6, 601777 (3)
Leber congenital amaurosis 1, 204000 (3)
?Choroidal dystrophy, central areolar 1, 215500 (3)
HOXB1 Facial paresis, hereditary congenital, 3, 614744 (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)
KIF1C Spastic ataxia 2, autosomal recessive, 611302 (3)
KLHL10 Spermatogenic failure 11, 615081 (3)
KRT10 Ichthyosis with confetti, 609165 (3)
Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3)
Epidermolytic hyperkeratosis, 113800 (3)
KRT12 Meesmann corneal dystrophy, 122100 (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)
KRT17 Pachyonychia congenita 2, 167210 (3)
Steatocystoma multiplex, 184500 (3)
KRT25 Woolly hair, autosomal recessive 3, 616760 (3)
MAPT Dementia, frontotemporal, with or without parkinsonism, 600274 (3)
{Parkinson disease, susceptibility to}, 168600 (3)
Pick disease, 172700 (3)
Supranuclear palsy, progressive atypical, 260540 (3)
Supranuclear palsy, progressive, 601104 (3)
MEOX1 Klippel-Feil syndrome 2, 214300 (3)
MKS1 Bardet-Biedl syndrome 13, 615990 (3)
Joubert syndrome 28, 617121 (3)
Meckel syndrome 1, 249000 (3)
MPO {Lung cancer, protection against, in smokers} (3)
Myeloperoxidase deficiency, 254600 (3)
{Alzheimer disease, susceptibility to}, 104300 (3)
MRPS7 ?Combined oxidative phosphorylation deficiency 34, 617872 (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)
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)
NTN1 Mirror movements 4, 618264 (3)
NUP85 Nephrotic syndrome, type 17, 618176 (3)
PFN1 Amyotrophic lateral sclerosis 18, 614808 (3)
PGAP3 Hyperphosphatasia with mental retardation syndrome 4, 615716 (3)
PITPNM3 Cone-rod dystrophy 5, 600977 (3)
PLEKHM1 Osteopetrosis, autosomal dominant 3, 618107 (3)
?Osteopetrosis, autosomal recessive 6, 611497 (3)
PMP22 Charcot-Marie-Tooth disease, type 1A, 118220 (3)
Charcot-Marie-Tooth disease, type 1E, 118300 (3)
Dejerine-Sottas disease, 145900 (3)
Neuropathy, recurrent, with pressure palsies, 162500 (3)
?Neuropathy, inflammatory demyelinating, 139393 (3)
Roussy-Levy syndrome, 180800 (3)
PRKCA Pituitary tumor, invasive (3)
PRPF8 Retinitis pigmentosa 13, 600059 (3)
PSMD12 Stankiewicz-Isidor syndrome, 617516 (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)
RGS9 Bradyopsia, 608415 (3)
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)
SEPT9 Amyotrophy, hereditary neuralgic, 162100 (3)
Leukemia, acute myeloid, therapy-related (1)
Ovarian carcinoma (1)
SERPINF1 Osteogenesis imperfecta, type VI, 613982 (3)
SHPK [Sedoheptulokinase deficiency], 617213 (3)
SLC25A19 Microcephaly, Amish type, 607196 (3)
Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (3)
SLC46A1 Folate malabsorption, hereditary, 229050 (3)
SLC4A1 Cryohydrocytosis, 185020 (3)
Ovalocytosis, SA type, 166900 (3)
Renal tubular acidosis, distal, AD, 179800 (3)
Renal tubular acidosis, distal, AR, 611590 (3)
Spherocytosis, type 4, 612653 (3)
[Blood group, Diego], 110500 (3)
[Blood group, Froese], 601551 (3)
[Blood group, Swann], 601550 (3)
[Blood group, Waldner], 112010 (3)
[Blood group, Wright], 112050 (3)
[Malaria, resistance to], 611162 (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)
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)
TBX4 Ischiocoxopodopatellar syndrome, 147891 (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)
TMC8 Epidermodysplasia verruciformis 2, 618231 (3)
TMEM107 Meckel syndrome 13, 617562 (3)
Orofaciodigital syndrome XVI, 617563 (3)
?Joubert syndrome 29, 617562 (3)
TNFRSF13B Immunodeficiency, common variable, 2, 240500 (3)
Immunoglobulin A deficiency 2, 609529 (3)
TOP3A Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097 (3)
?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 (3)
TP53 {Glioma susceptibility 1}, 137800 (3)
Bone marrow failure syndrome 5, 618165 (3)
Breast cancer, somatic, 114480 (3)
Hepatocellular carcinoma, somatic, 114550 (3)
{Osteosarcoma}, 259500 (3)
Li-Fraumeni syndrome, 151623 (3)
Nasopharyngeal carcinoma, somatic, 607107 (3)
Pancreatic cancer, somatic 260350 (3)
{Adrenocortical carcinoma, pediatric}, 202300 (3)
{Basal cell carcinoma 7}, 614740 (3)
{Choroid plexus papilloma}, 260500 (3)
{Colorectal cancer}, 114500 (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)
TUBG1 Cortical dysplasia, complex, with other brain malformations 4, 615412 (3)
UNC13D Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)
VPS53 Pontocerebellar hypoplasia, type 2E, 615851 (3)
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)
Hydrocephalus, congenital, 3, with brain anomalies, 617967 (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, ACADVL, ACE, ACOX1, ACTG1, AIPL1, ALOXE3, ASPA, AXIN2, B9D1, BRIP1, CACNA1G, CARD14, CBX2, CCDC137, CCDC40, CD79B, CHRNB1, CNTNAP1, COASY, COL1A1, COX10, CTC1, CTNS, DGKE, DLX3, DNAI2, DPH1, EFTUD2, ENO3, EPX, FAM20A, GAA, GFAP, GOSR2, GP1BA, GPR179, GRN, GUCY2D, HOXB1, ITGA2B, ITGA3, ITGB3, ITGB4, JUP, KANSL1, KIF1C, KLHL10, KRT10, KRT12, KRT13, KRT14, KRT17, KRT25, MAPT, MEOX1, MKS1, MPO, MYH3, MYH8, MYO15A, NAGLU, NF1, NLRP1, PFN1, PGAP3, PITPNM3, PLEKHM1, PMP22, PRPF8, PYCR1, RAI1, RGS9, RHBDF2, RNF213, SCN4A, SEPT9, SERPINF1, SERPINF2, SLC25A19, SLC46A1, SLC4A1, SLC52A1, SLC9A3R1, SLFN14, SOX9, TBX4, TCAP, TMC6, TMC8, TNFRSF13B, TP53, TRPV3, TSEN54, TTC19, TUBG1, UNC13D, VPS53, WDR81, ZMYND15, ZNF750,
ABCA5 Hypertrichosis terminalis, generalized, with or without gingival hyperplasia
ACADVL Acyl-CoA dehydrogenase, very long chain, deficiency of
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
BRIP1 Breast cancer
Fanconi anemia, complementation group J
CACNA1G Spinocerebellar ataxia 42
CARD14 Psoriasis 2
CBX2 46,XY sex reversal 5
CCDC137 Schizophrenia
CCDC40 Ciliary dyskinesia, primary, 15
CD79B Agammaglobulinemia 6
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
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
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
GP1BA Bernard-Soulier syndrome, type A2
Bernard-Soulier syndrome, type A1
Pseudo-von Willebrand disease
GPR179 Night blindness, congenital stationary, type 1E
GRN Frontotemporal lobar degeneration with TDP43 inclusions, GRN-related
Neuronal ceroid lipofuscinosis 11
GUCY2D Cone-rod dystrophy 6
Leber congenital amaurosis, type 1
Cone-Rod dystrophy, autosomal recessive
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
KIF1C Spastic ataxia 2, autosomal recessive
KLHL10 Spermatogenic failure 11
KRT10 Erythroderma, ichthyosiform, congenital reticular
Aaru disease
Ichthyosis, cyclic, with epidermolytic hyperkeratosis
Epidermolytic hyperkeratosis
Ichthyosis with confetti
KRT12 Meesmann corneal dystrophy
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
KRT17 Steatocystoma multiplex
Pachyonychia congenita 2
KRT25 Woolly hair, autosomal recessive 3
MAPT Supranuclear palsy, progressive
Frontotemporal dementia
Parkinson-dementia sydnrome
Pick disease
MEOX1 Klippel-Feil syndrome 2
MKS1 Meckel syndrome 1
Bardet-Biedl syndrome 13
MPO Myeloperoxidase deficiency
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)
NF1 Neurofibromatosis type 1, Neurofibromatosis-Noonan syndrome
Watson syndrome
NLRP1 Corneal intraepithelial dyskeratosis and ectodermal dysplasia
PFN1 Amyotrophic lateral sclerosis 18
PGAP3 Hyperphosphatasia with mental retardation syndrome 4
PITPNM3 Cone-rod dystrophy 5
PLEKHM1 Osteopetrosis, autosomal recessive 6
PMP22 Roussy-Levy syndrome
Charcot-Marie-Tooth syndrome, type 1A
Charcot-Marie-Tooth syndrome with deafness (type 1E)
Neuropathy, hereditary, with liability to pressurve palsies
Dejerine-Sottas disease
Neuropathy, inflammatory demyelinating
PRPF8 Retinitis pigmentosa 13
PYCR1 Cutis laxa, autosomal recessive, type IIB
Cutis laxa, autosomal recessive type IIIB
RAI1 Smith-Magenis syndrome
RGS9 Bradyopsia
RHBDF2 Tylosis with esophageal cancer
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
SEPT9 Amyotrophy, hereditary neuralgic
SERPINF1 Osteogenesis imperfecta, type VI
SERPINF2 Alpha-2-plasmin inhibitor deficiency
SLC25A19 Thiamine metabolism dysfunction syndrome 4
Microcephaly, Amish type
SLC46A1 Folate malabsorption, hereditary
SLC4A1 Spherocytosis, type 4
Ovalcytosis, Southeast Asian
Cryohydrocytosis
Renal tubular acidosis, distal, with hemolytic anemia
Renal tubular acidosis, distal, autosomal dominant
Renal tubular acidosis, distal, autosomal recessive
Blood group, Wright
Blood group, Waldner
Blood group, Diego
Blood group, Froese
Blood group, Swann
SLC52A1 Maternal riboflavin deficiency
SLC9A3R1 Nephrolithiasis/osteoporosis, hypophosphatemic, 2
SLFN14 Bleeding disorder, platelet-type, 20
SOX9 46, XY sex reversal 10
Campomelic dysplasia
TBX4 Small patella syndrome
TCAP Cardiomyopathy, dilated, 1N
Cardiomyopathy, familial hypertrophic 25
Muscular dystrophy, limb-girdle, type 2G
TMC6 Epidermodysplasia verruciformis
TMC8 Epidermodysplasia verruciformis
TNFRSF13B Immunoglobulin A deficiency 2
Common variable immunodeficiency 2
TP53 Li-Fraumeni syndrome
Choroid plexus papilloma
Ependymoma, intracranial
Osteogenic sarcoma
Breast cancer, familial
Hepatoblastoma
Non-Hodgkin lymphoma
Adrenocortical carcinoma
Colorectal cancer
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
TUBG1 Cortical dysplasia, complex, with other brain malformations 4
UNC13D Hemophagocytic lymphohistiocytosis, familial 3
VPS53 Pontocerebellar hypoplasia, type 2E
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
ZMYND15 Spermatogenic failure 14
ZNF750 Seborrhea-like dermatitis with psoriasiform elements

Genes at HGMD

Summary

Number of Variants: 8664
Number of Genes: 642

Export to: CSV

AATF
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 mm180112f 17 rs1045056
dbSNP Clinvar 		35346641 748.77 T C . 0/1 61 None None None 0.15675 0.15670 0.24273 None None None None None None AATF|0.980408321|1.45%

AATK
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 mm180112f 17 rs8073904
dbSNP Clinvar 		79095144 7315.77 G A . 1/1 246 None None None 0.80531 0.80530 0.14925 None None None None None None AATK|0.00450864|86.39%
View mm180112f 17 rs56384363
dbSNP Clinvar 		79102327 692.77 G A . 0/1 53 None None None 0.00220 0.00220 0.00519 None None None None None None AATK|0.00450864|86.39%

ABCA5
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 mm180112f 17 rs557491
dbSNP Clinvar 		67267317 470.77 T C . 0/1 46 None None None 0.49740 0.49740 0.45794 0.49 0.00 None None None None None None ABCA5|0.269145961|29.93%
View mm180112f 17 rs536009
dbSNP Clinvar 		67273882 1146.77 C A . 1/1 45 None None None 0.80172 0.80170 0.22177 0.62 0.00 None None None None None None ABCA5|0.269145961|29.93%

ABCA6
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 mm180112f 17 rs7212506
dbSNP Clinvar 		67101718 220.84 C T . 1/1 10 None None None 0.74780 0.74780 0.22058 0.42 0.00 None None None None None None ABCA6|0.006278632|84.32%
View mm180112f 17 rs745430567
dbSNP Clinvar 		67096947 288.77 T C . 0/1 27 None None None None None None None None None ABCA6|0.006278632|84.32%

ABCA8
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 mm180112f 17 rs34001235
dbSNP Clinvar 		66887675 216.77 C T . 0/1 29 None None None 0.01438 0.01438 0.01284 None None None None None None ABCA8|0.008754907|81.9%
View mm180112f 17 rs1481
dbSNP Clinvar 		66872802 4198.77 G C . 1/1 141 None None None 0.81350 0.81350 0.26980 None None None None None None ABCA8|0.008754907|81.9%

ABCA9
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 mm180112f 17 rs1860447
dbSNP Clinvar 		67031457 1421.77 C T . 1/1 55 None None None 0.85783 0.85780 0.14363 0.90 0.00 None None None None None None ABCA9|0.017284198|75.69%
View mm180112f 17 rs2302291
dbSNP Clinvar 		67028260 990.77 T C . 0/1 98 None None None 0.40695 0.40690 0.47932 None None None None None None ABCA9|0.017284198|75.69%

ABCC3
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 mm180112f 17 rs12604031
dbSNP Clinvar 		48712705 4433.77 G A . 1/1 165 None None None 0.76378 0.76380 0.00 None None None None None None ABCC3|0.044769991|64.26%
View mm180112f 17 rs9890046
dbSNP Clinvar 		48712711 4565.77 C G . 1/1 165 None None None 0.87740 0.87740 0.00 None None None None None None ABCC3|0.044769991|64.26%
View mm180112f 17 rs4148416
dbSNP Clinvar 		48753423 1744.77 C T . 0/1 150 None None None 0.13698 0.13700 0.10095 None None None None None None ABCC3|0.044769991|64.26%
View mm180112f 17 rs967935
dbSNP Clinvar 		48755388 2403.77 C T . 0/1 251 None None None 0.12161 0.12160 0.09 None None None None None None ABCC3|0.044769991|64.26%
View mm180112f 17 rs2277624
dbSNP Clinvar 		48761105 9007.77 C T . 1/1 342 None None None 0.28694 0.28690 0.26465 None None None None None None ABCC3|0.044769991|64.26%
View mm180112f 17 rs1051640
dbSNP Clinvar 		48768486 681.77 A G . 0/1 52 None None None 0.10403 0.10400 0.14639 None None None None None None ABCC3|0.044769991|64.26%

ABHD15
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm180112f 17 rs721479
dbSNP Clinvar 		27889963 2546.77 C G . 0/1 246 None None None 0.22284 0.22280 0.22328 None None None None None None ABHD15|0.102676834|50.66%
View mm180112f 17 rs542939
dbSNP Clinvar 		27889986 6765.77 T C . 1/1 231 None None None 0.76797 0.76800 0.30571 1.00 0.03 None None None None None None ABHD15|0.102676834|50.66%

ABI3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm180112f 17 rs616338
dbSNP Clinvar 		47297297 2968.77 T C . 1/1 102 None None None 0.99840 0.99840 0.00701 1.00 0.00 None None None None None None ABI3|0.032000436|68.63%

ABR
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm180112f 17 rs118178620
dbSNP Clinvar 		908352 5130.77 C T . 0/1 386 None None None 0.03954 0.03954 0.00 0.00 None None None None None None ABR|0.634601907|10.64%
View mm180112f 17 rs9903778
dbSNP Clinvar 		934898 524.77 G A . 0/1 46 None None None 0.08466 0.08466 None None None None None None ABR|0.634601907|10.64%
View mm180112f 17 rs146613429
dbSNP Clinvar 		934930 586.77 G T . 0/1 57 None None None 0.04513 0.04513 0.57 0.01 None None None None None None ABR|0.634601907|10.64%
View mm180112f 17 rs2262150
dbSNP Clinvar 		970413 2697.77 C T . 1/1 108 None None None 0.89697 0.89700 0.13425 None None None None None None ABR|0.634601907|10.64%

AC005544.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm180112f 17 rs740555
dbSNP Clinvar 		65027740 7810.77 G C . 1/1 269 None None None 0.34984 0.34980 0.98 None None None None None None CACNG4|0.127367032|46.28%

AC040977.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm180112f 17 rs7338
dbSNP Clinvar 		6917703 509.77 C T . 1/1 15 None None None 0.76378 0.76380 0.07 0.46 None None None None None None RNASEK|0.057333942|60.59%,RNASEK-C17orf49|0.371919774|22.61%

AC061992.1
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 mm180112f 17 rs4969188
dbSNP Clinvar 		76422473 2178.77 T C . 1/1 71 None None None 0.76617 0.76620 0.00 None None None None None None DNAH17|0.043900967|64.55%

AC087645.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm180112f 17 rs17882139
dbSNP Clinvar 		76219784 2007.73 T TAA . 0/1 76 None None None 0.01358 0.01358 0.02254 None None None None None None BIRC5|0.935922721|2.64%

AC090616.2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm180112f 17 rs764030181
dbSNP Clinvar 		30469470 4181.73 CC... C . 0/1 83 None None None None None None None None None None

AC102948.2
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 mm180112f 17 rs12944681
dbSNP Clinvar 		50939767 1252.77 C G . 1/1 44 None None None 0.27097 0.27100 0.00 None None None None None None None
View mm180112f 17 rs12945789
dbSNP Clinvar 		50939812 1220.77 A C . 1/1 41 None None None 0.27137 0.27140 0.00 None None None None None None None

AC129492.6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm180112f 17 rs2304907
dbSNP Clinvar 		7983799 2190.77 A G . 0/1 183 None None None 0.45986 0.45990 None None None None None None ALOX12B|0.051252104|62.25%

ACACA
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 mm180112f 17 rs1470452
dbSNP Clinvar 		35478362 4039.77 T C . 1/1 155 None None None 1.00000 1.00000 0.00108 None None None None None None ACACA|0.94269074|2.39%
View mm180112f 17 rs58654829
dbSNP Clinvar 		35696804 260.77 G A . 0/1 39 None None None 0.58546 0.58550 0.34776 None None None None None None ACACA|0.94269074|2.39%

ACADVL
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm180112f 17 rs113994167
dbSNP Clinvar 		7125591 2050.77 T C . 0/1 147 None None None 0.00092 0.00 0.41 None None None None None None ACADVL|0.231050725|33.28%

ACBD4
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 mm180112f 17 rs16939879
dbSNP Clinvar 		43216472 1800.77 A G . 0/1 169 None None None 0.08826 0.08826 0.10269 0.25 0.00 None None None None None None ACBD4|0.054594192|61.31%

ACE
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm180112f 17 rs4309
dbSNP Clinvar 		61559923 5956.77 C T . 1/1 210 None None None 0.42352 0.42350 0.33569 None None None None None None ACE|0.894558224|3.56%
View mm180112f 17 rs4316
dbSNP Clinvar 		61562309 4833.77 C T . 1/1 174 None None None 0.51917 0.51920 0.42675 None None None None None None ACE|0.894558224|3.56%
View mm180112f 17 rs4331
dbSNP Clinvar 		61564052 7663.77 A G . 1/1 274 None None None 0.52955 0.52960 0.44326 None None None None None None ACE|0.894558224|3.56%
View mm180112f 17 rs4343
dbSNP Clinvar 		61566031 3406.77 G A . 1/1 131 None None None 0.64317 0.64320 0.43987 None None None None None None ACE|0.894558224|3.56%
View mm180112f 17 rs4362
dbSNP Clinvar 		61573761 4860.77 T C . 1/1 179 None None None 0.58746 0.58750 0.49470 None None None None None None ACE|0.894558224|3.56%

ACLY
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 mm180112f 17 rs8065502
dbSNP Clinvar 		40048613 2690.77 A G . 1/1 94 None None None 0.90435 0.90440 0.12479 None None None None None None ACLY|0.44685425|18.3%

ACOX1
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 mm180112f 17 rs1135640
dbSNP Clinvar 		73949540 1427.77 G C . 0/1 131 None None None 0.55072 0.55070 0.49131 0.17 0.01 None None None None None None ACOX1|0.181440529|38.86%
View mm180112f 17 rs8065946
dbSNP Clinvar 		73945957 1513.77 A G . 0/1 114 None None None 0.07169 0.07169 0.07158 None None None None None None ACOX1|0.181440529|38.86%

ACSF2
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 mm180112f 17 rs2305998
dbSNP Clinvar 		48549791 1929.77 C G . 0/1 138 None None None 0.18570 0.18570 0.24427 None None None None None None ACSF2|0.036236332|67.04%

ACTG1
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 mm180112f 17 rs1139405
dbSNP Clinvar 		79478019 5525.77 G A . 1/1 189 None None None 0.75619 0.75620 0.24543 None None None None None None ACTG1|0.983116739|1.38%
View mm180112f 17 rs1135989
dbSNP Clinvar 		79478007 5837.77 G A . 1/1 201 None None None 0.18530 0.18530 0.31639 None None None None None None ACTG1|0.983116739|1.38%

ADAM11
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 mm180112f 17 rs35936481
dbSNP Clinvar 		42851729 1659.77 C T . 0/1 127 None None None 0.64557 0.64560 0.40983 None None None None None None ADAM11|0.131633893|45.66%
View mm180112f 17 rs1558083
dbSNP Clinvar 		42852604 3412.77 G T . 0/1 269 None None None 0.64557 0.64560 0.41950 None None None None None None ADAM11|0.131633893|45.66%
View mm180112f 17 rs1558084
dbSNP Clinvar 		42852610 8529.77 T C . 1/1 287 None None None 0.90495 0.90500 0.10518 None None None None None None ADAM11|0.131633893|45.66%
View mm180112f 17 rs8075210
dbSNP Clinvar 		42854610 1747.77 T C . 0/1 128 None None None 0.64537 0.64540 0.41973 None None None None None None ADAM11|0.131633893|45.66%
View mm180112f 17 rs2070605
dbSNP Clinvar 		42855554 1819.77 T C . 0/1 141 None None None 0.64537 0.64540 0.41996 None None None None None None ADAM11|0.131633893|45.66%

ADPRM
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 mm180112f 17 rs406446
dbSNP Clinvar 		10614442 552.77 A G . 0/1 48 None None None 0.48722 0.48720 0.48770 0.09 0.04 None None None None None None ADPRM|0.084888375|54.22%,TMEM220|0.046283396|63.81%

AIPL1
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 mm180112f 17 rs2292546
dbSNP Clinvar 		6330068 3298.77 T C . 0/1 250 None None None 0.71366 0.71370 0.26134 None None None None None None AIPL1|0.064852727|58.69%
View mm180112f 17 rs8075035
dbSNP Clinvar 		6331803 2604.77 T C . 0/1 214 None None None 0.57588 0.57590 0.39474 None None None None None None AIPL1|0.064852727|58.69%

AKAP1
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 mm180112f 17 rs2230772
dbSNP Clinvar 		55183203 7016.77 T C . 1/1 251 None None None 0.47824 0.47820 0.39136 None None None None None None AKAP1|0.039700237|65.85%
View mm180112f 17 rs1050515
dbSNP Clinvar 		55183716 2143.77 T C . 1/1 62 None None None 0.59066 0.59070 0.45917 None None None None None None AKAP1|0.039700237|65.85%

AKAP10
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 mm180112f 17 rs2108978
dbSNP Clinvar 		19861458 811.77 C T . 0/1 84 None None None 0.38958 0.38960 0.44495 0.74 0.00 None None None None None None AKAP10|0.479048269|16.82%
View mm180112f 17 rs203462
dbSNP Clinvar 		19812541 899.77 T C . 0/1 84 None None None 0.39397 0.39400 0.45041 1.00 0.00 None None None None None None AKAP10|0.479048269|16.82%

ALDH3A1
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 mm180112f 17 rs2072330
dbSNP Clinvar 		19644472 3017.77 A T . 1/1 107 None None None 0.29074 0.29070 0.30186 None None None None None None ALDH3A1|0.032163878|68.52%
View mm180112f 17 rs887241
dbSNP Clinvar 		19645938 5041.77 A C . 1/1 177 None None None 0.74461 0.74460 0.34669 0.88 0.00 None None None None None None ALDH3A1|0.032163878|68.52%

ALOX12
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 mm180112f 17 rs1126667
dbSNP Clinvar 		6902760 1053.77 A G . 0/1 88 None None None 0.60403 0.60400 0.39190 0.40 0.01 None None None None None None ALOX12|0.072773622|56.83%
View mm180112f 17 rs434473
dbSNP Clinvar 		6904934 1354.77 A G . 0/1 123 None None None 0.34125 0.34130 0.34507 0.81 0.00 None None None None None None ALOX12|0.072773622|56.83%
View mm180112f 17 rs1042357
dbSNP Clinvar 		6905061 1996.77 T G . 0/1 158 None None None 0.57228 0.57230 0.42734 None None None None None None ALOX12|0.072773622|56.83%
View mm180112f 17 rs1042356
dbSNP Clinvar 		6902743 1059.77 G A . 0/1 95 None None None 0.60184 0.60180 0.39466 None None None None None None ALOX12|0.072773622|56.83%
View mm180112f 17 rs312467
dbSNP Clinvar 		6899559 1785.77 C G . 1/1 68 None None None 0.00140 0.94930 None None None None None None ALOX12|0.072773622|56.83%

ALOX15
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 mm180112f 17 rs3887815
dbSNP Clinvar 		4541560 124.8 G A . 0/1 229 None None None None None None None None None ALOX15|0.017879585|75.36%

ALOX15B
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 mm180112f 17 rs6503070
dbSNP Clinvar 		7948175 1278.77 C T . 0/1 94 None None None 0.59724 0.59720 0.44572 None None None None None None ALOX15B|0.008183706|82.49%
View mm180112f 17 rs11541083
dbSNP Clinvar 		7950377 1058.77 C T . 0/1 119 None None None 0.24840 0.24840 0.26411 None None None None None None ALOX15B|0.008183706|82.49%
View mm180112f 17 rs9898751
dbSNP Clinvar 		7950952 1578.77 C A . 0/1 138 None None None 0.44748 0.44750 0.44649 None None None None None None ALOX15B|0.008183706|82.49%
View mm180112f 17 rs4792147
dbSNP Clinvar 		7951819 1727.77 A G . 0/1 163 None None None 0.65036 0.65040 0.39520 0.46 0.00 None None None None None None ALOX15B|0.008183706|82.49%
View mm180112f 17 rs76589243
dbSNP Clinvar 		7942901 1177.77 C G . 0/1 84 None None None 0.26358 0.26360 0.22180 None None None None None None ALOX15B|0.008183706|82.49%

ALOXE3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm180112f 17 rs3027232
dbSNP Clinvar 		8022065 3011.77 G A . 0/1 258 None None None 0.37400 0.37400 0.00 0.00 None None None None None None ALOXE3|0.073088496|56.77%

ANKFN1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm180112f 17 rs957724
dbSNP Clinvar 		54450038 291.77 C A . 0/1 43 None None None 0.61562 0.61560 0.46432 None None None None None None ANKFN1|0.698610051|8.53%
View mm180112f 17 rs8069322
dbSNP Clinvar 		54450134 554.77 G A . 0/1 81 None None None 0.67232 0.67230 0.39474 None None None None None None ANKFN1|0.698610051|8.53%
View mm180112f 17 rs10852985
dbSNP Clinvar 		54534634 239.77 G A . 0/1 16 None None None 0.75160 0.75160 0.30403 0.16 0.08 None None None None None None ANKFN1|0.698610051|8.53%

ANKFY1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm180112f 17 rs2020118
dbSNP Clinvar 		4088291 5265.77 C T . 1/1 179 None None None 0.77436 0.77440 0.20761 None None None None None None CYB5D2|0.023633765|72.36%,ANKFY1|0.171100968|40.16%
View mm180112f 17 rs3744671
dbSNP Clinvar 		4109722 574.77 G A . 0/1 69 None None None 0.09884 0.09884 0.09817 None None None None None None ANKFY1|0.171100968|40.16%

AOC3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm180112f 17 rs33986943
dbSNP Clinvar 		41004637 2172.77 G A . 0/1 175 None None None 0.04832 0.04832 0.07450 0.38 0.01 None None None None None None AOC3|0.087399951|53.73%

AP2B1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm180112f 17 rs1049379
dbSNP Clinvar 		33998802 90.77 G C . 0/1 16 None None None 0.47105 0.47100 0.49354 None None None None None None AP2B1|0.759088782|6.87%
View mm180112f 17 rs17670584
dbSNP Clinvar 		33998904 654.77 T C . 0/1 59 None None None 0.04353 0.04353 0.07804 None None None None None None AP2B1|0.759088782|6.87%

APOH
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm180112f 17 rs8178847
dbSNP Clinvar 		64216815 830.77 C T . 0/1 57 None None None 0.07029 0.07029 0.07358 0.24 0.16 None None None None None None APOH|0.076233012|56.02%
View mm180112f 17 rs1801690
dbSNP Clinvar 		64208285 757.77 C G . 0/1 54 None None None 0.03654 0.03654 0.03683 0.01 0.98 None None None None None None APOH|0.076233012|56.02%
View mm180112f 17 rs52797880
dbSNP Clinvar 		64216854 677.77 A G . 0/1 45 None None None 0.07029 0.07029 0.07358 1.00 0.00 None None None None None None APOH|0.076233012|56.02%

ARHGAP23
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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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 mm180112f 17 rs62074752
dbSNP Clinvar 		36666551 5475.77 T C . 1/1 197 None None None 0.83746 0.83750 None None None None None None ARHGAP23|0.124657713|46.71%
View mm180112f 17 rs8075324
dbSNP Clinvar 		36622482 2963.77 G C . 0/1 303 None None None 0.29872 0.29870 None None None None None None ARHGAP23|0.124657713|46.71%
View mm180112f 17 rs7405920
dbSNP Clinvar 		36635721 1876.77 C T . 1/1 74 None None None 0.95687 0.95690 0.05105 None None None None None None ARHGAP23|0.124657713|46.71%
View mm180112f 17 rs9891156
dbSNP Clinvar 		36646386 5179.77 A G . 1/1 183 None None None 0.99082 0.99080 0.02015 None None None None None None ARHGAP23|0.124657713|46.71%
View mm180112f 17 rs117469511
dbSNP Clinvar 		36646726 279.77 C T . 0/1 187 None None None None None None None None None ARHGAP23|0.124657713|46.71%

ARHGAP27
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm180112f 17 rs117139057
dbSNP Clinvar 		43472825 1513.77 G C . 0/1 123 None None None 0.07348 0.07348 0.05734 0.00 0.98 None None None None None None ARHGAP27|0.041158202|65.39%
View mm180112f 17 rs2959953
dbSNP Clinvar 		43507008 7526.77 G C . 1/1 270 None None None 0.61961 0.61960 0.27764 1.00 0.00 None None None None None None ARHGAP27|0.041158202|65.39%
View mm180112f 17 rs12949256
dbSNP Clinvar 		43507297 921.77 C T . 0/1 60 None None None 0.07987 0.07987 0.51 0.17 None None None None None None ARHGAP27|0.041158202|65.39%
View mm180112f 17 rs7220206
dbSNP Clinvar 		43507403 1258.77 G A . 0/1 83 None None None 0.07907 0.07907 None None None None None None ARHGAP27|0.041158202|65.39%

ARHGEF15
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 mm180112f 17 rs871841
dbSNP Clinvar 		8216468 3431.77 T C . 0/1 240 None None None 0.62101 0.62100 0.43657 1.00 0.00 None None None None None None ARHGEF15|0.03636471|66.99%
View mm180112f 17 rs3744647
dbSNP Clinvar 		8224276 4072.77 T C . 1/1 144 None None None 0.57788 0.57790 0.35699 1.00 0.00 None None None None None None ARHGEF15|0.03636471|66.99%

ARRB2
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 mm180112f 17 rs1045280
dbSNP Clinvar 		4622638 2850.77 C T . 0/1 309 None None None 0.66953 0.66950 0.40051 None None None None None None ARRB2|0.726219786|7.8%

ARSG
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 mm180112f 17 rs9972951
dbSNP Clinvar 		66391276 3931.77 G A . 1/1 142 None None None 0.11182 0.11180 0.03545 0.50 0.00 None None None None None None ARSG|0.038924858|66.13%

ASB16
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 mm180112f 17 rs74491716
dbSNP Clinvar 		42254236 1820.77 G A . 0/1 157 None None None 0.01418 0.01418 0.01918 0.02 0.92 None None None None None None ASB16|0.091388506|52.96%
View mm180112f 17 rs7212573
dbSNP Clinvar 		42254281 1795.77 A G . 0/1 131 None None None 0.51797 0.51800 0.39450 1.00 0.00 None None None None None None ASB16|0.091388506|52.96%
View mm180112f 17 rs7212854
dbSNP Clinvar 		42254417 1158.77 A G . 0/1 85 None None None 0.45427 0.45430 0.15988 0.01 0.08 None None None None None None ASB16|0.091388506|52.96%