Sangerova analýza

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Medgene Slovensko

Sangerova analýza

Pre vašich pacientov poskytujeme komplexnú genetickú diagnostiku s dlhoročnou skúsenosťou a promptnosťou v etablovaní nových génov. V prípade, ak ste požadovaný gén v zozname nenašli, neváhajte nás kontaktovať. V zozname môžete vyhľadávať podľa anglického názvu ochorenia, podľa génu alebo gOMIM a pOMIM čísla.

Ochorenie pOMIM Gén gOMIM
Ochorenie pOMIM Gén gOMIM
3-hydroxyacyl-CoA dehydrogenase deficiency 231530 HAD 601609
3-methylglutaconic aciduria, type III 258501 OPA3 606580
46XX sex reversal 1 400045 SRY 480000
46XY partial gonadal dysgenesis, with minifascicular neuropathy 607080 DHH 605423
46XY sex reversal 1 400044 SRY 480000
46XY sex reversal 3 612965 NR5A1 184757
46XY sex reversal 7 233420 DHH 605423
ABCD syndrome 600501 EDNRB 131244
Abetalipoproteinemia 200100 MTTP 157147
Acne inversa, familial, 3 613737 PSEN1 104311
Acrodermatitis enteropathica 201100 SLC39A4 607059
Acrodysostosis 2 with or without hormone resistance 614613 PDE4D 600129
Acrofacial dysostosis 1, Nager type 154400 SF3B4 605593
Acrokeratosis verruciformis 101900 ATP2A2 108740
Acromicric dysplasia 102370 FBN1 134797
ACTH-independent macronodular adrenal hyperplasia 219080 GNAS 139320
Acyl-CoA dehydrogenase, medium chain, deficiency of 201450 ACADM 607008
Adenomas, multiple colorectal 608456 MUTYH 604933
Adenomatous polyposis coli 175100 APC 611731
Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency 202010 CYP11B1 610613
Adrenal hyperplasia, congenital, due to 17-hydroxylase deficiency 202110 CYP17A1 609300
Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 201910 CYP21A2 613815
Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency 201810 HSD3B2 613890
Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism 300200 NR0B1 300473
Adrenoleukodystrophy/Adrenomyeloneuropathy 300100 ABCD1 300371
ADULT syndrome 103285 TP63 603273
Afibrinogenemia, congenital 202400 FGG 134850
Afibrinogenemia, congenital 202400 FGA 134820
Afibrinogenemia, congenital 202400 FGB 134830
Agammaglobulinemia, X-linked 1 300755 BTK 300300
Achondrogenesis Ib 600972 SLC26A2 606718
Achondrogenesis, type II or hypochondrogenesis 200610 COL2A1 120140
Aicardi-Goutieres syndrome 1 225750 trEX1 606609
Aicardi-Goutieres syndrome 6 615010 ADAR 146920
Alagille syndrome 1 118450 JAG1 601920
Alagille syndrome 2 610205 NOTCH2 600275
Albinism, oculo cutaneous, type VI 113750 SLC24A5 609802
Albinism, oculocutaneous IA 203100 TYR 606933
Albinism, oculocutaneous IB 606952 TYR 606933
Albinism, oculocutaneous II 203200 OCA2 611409
Albinism, oculocutaneous IV 606574 SLC45A2 606202
Albinism, oculocutaneous VII
615179 LRMDA 614537
Aldosteronism, glucocorticoid-remediable 103900 CYP11B1 610613
Alexander disease 203450 GFAP 137780
Allan-Herndon-Dudley syndrome 300523 SLC16A2 300095
Alpha-1-Antitrypsin deficiency 613490 SERPINA1 107400
Alpha-methylacetoacetic aciduria 203750 ACAT1 607809
Alstrom syndrome 203800 ALMS1 606844
Alternating hemiplegia of childhood 104290 ATP1A2 182340
Alternating hemiplegia of childhood 2 614820 ATP1A3 182350
Alzheimer disease 1
 104300 APP 104760
Alzheimer disease 2 104310 APOE 107741
Alzheimer disease 3 607822 PSEN1 104311
Amelogenesis imperfecta IB 104500 ENAM 606585
Amelogenesis imperfecta IC 204650 ENAM 606585
Amelogenesis imperfecta IIA1 204700 KLK4 603767
Amelogenesis imperfecta III 130900 FAM83H 611927
Amyloidosis 105200 APOA1 107680
Amyloidosis, familial 105200 FGA 134820
Amyloidosis, Finnish type -Familial amyloid polyneuropathy type 4 105120 GSN 137350
Amyloidosis, hereditary, transthyretin-related 105210 Ttr 176300
Amyloidosis, renal 105200 LYZ 153450
Amyotrophic lateral sclerosis 01 105400 SOD1 147450
Amyotrophic lateral sclerosis 02 205100 ALS2 606352
Amyotrophic lateral sclerosis 04 602433 SETX 608465
Amyotrophic lateral sclerosis 08 608627 VAPB 605704
Amyotrophic lateral sclerosis 09 611895 ANG 105850
Amyotrophic lateral sclerosis 10 605078 TARDBP 612069
Amyotrophic lateral sclerosis 11 612577 FIG4 609390
Amyotrophic lateral sclerosis 12 613435 OPTN 602432
Amyotrophic lateral sclerosis 14 613954 VCP 601023
Amyotrophic lateral sclerosis 5, juvenile 602099 SPG11 610844
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia 608030 FUS 137070
Amyotrophic lateral sclerosis, susceptibility to 105400 DCTN1 601143
Amyotrophic lateral sclerosis, susceptibility to, 13 183090 ATXN2 601517
Amyotrophy, hereditary neuralgic 162100 SEPT9 604061
Andersen syndrome 170390 KCNJ2 600681
Androgen insensitivity 300068 AR 313700
Androgen insensitivity, partial, with or without breast cancer 312300 AR 313700
Anemia, hypochromic microcytic, with iron overload 1 206100 SLC11A2 600523
Anemia, sideroblastic, X-linked 300751 ALAS2 301300
Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835 GATA1 305371
Angelman syndrome 105830 UBE3A 601623
Angioedema, hereditary 106100 SERPING1 606860
Angioedema, hereditary, type III 610618 F12 610619
Aniridia 106210 PAX6 607108
Anterior segment mesenchymal dysgenesis 107250 PITX3 602669
Anterior segment mesenchymal dysgenesis 107250 FOXE3 601094
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410 FGFR2 176943
Aortic aneurysm, ascending, and dissection 617168 FBN1 134797
Apert syndrome 101200 FGFR2 176943
Aphakia, congenital primary 610256 FOXE3 601094
Aphasia, primary progressive 607485 GRN 138945
ApoA-I and apoC-III deficiency, combined 618463 APOA1 107680
Artery disease, suceptibility to
MTHFR 607093
Arthrogryposis multiplex congenita, distal, type 1 108120 TPM2 190990
Arthrogryposis, distal 2A 193700 MYH3 160720
Arthrogryposis, distal 2B 601680 TNNI2 191043
Arthrogryposis, distal 2B 601680 TPM2 190990
Arthrogryposis, distal 2B 601680 MYH3 160720
Arthrogryposis, distal 2B 601680 TNNT3 600692
Arthrogryposis, distal 3 114300 PIEZO2 613629
Arthrogryposis, distal 5 108145 PIEZO2 613629
Arthrogryposis, distal 8 178110 MYH3 160720
Ataxia with Vitamin-E deficiency 277460 TTPA 600415
Ataxia-telangiectasia 208900 ATM 607585
Ataxia-telangiectasia-like disorder 604391 MRE11A 600814
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 208920 APTX 606350
Atelosteogenesis II 256050 SLC26A2 606718
Atelosteogenesis, type I 108720 FLNB 603381
Atelosteogenesis, type III 108721 FLNB 603381
Atrial fibrillation, familial, 10 614022 SCN5A 600163
Atrial fibrillation, familial, 3 607554 KCNQ1 607542
Atrial fibrillation, familial, 4 611493 KCNE2 603796
Atrial fibrillation, familial, 9 613980 KCNJ2 600681
Atrioventricular septal defect 3 600309 GJA1 121014
Autoimmune disease, multisystem, infantile-onset 615952 STAT3 102582
Avascular necrosis of the femoral head 608805 COL2A1 120140
Axenfeld-Rieger syndrome 1 180500 PITX2 601542
Bannayan-Riley-Ruvalcaba syndrome 153480 PTEN 601728
Bardet-Biedl syndrome 01 209900 BBS1 209901
Bardet-Biedl syndrome 02 209900 BBS2 606151
Bardet-Biedl syndrome 06 209900 MKKS 604896
Bardet-Biedl syndrome 10 209900 BBS10 610148
Bardet-Biedl syndrome 12 209900 BBS12 610683
Bardet-Biedl syndrome 13 209900 MKS1 609883
Bardet-Biedl syndrome 4 209900 BBS4 600374
Bardet-Biedl syndrome 5 209900 BBS5 603650
Barth syndrome 302060 TAZ 300394
Bartter syndrome 4B 613090 CLCNKB 602023
Bartter syndrome 4B 613090 CLCNKA 602024
Bartter syndrome, 4A 602522 BSND 606412
Bartter syndrome, antenatal, 2 241200 KCNJ1 600359
Bartter syndrome, type 3 607364 CLCNKB 602023
Basal Cell Nevus Syndrome 109400 PTCH1 601309
Basal Cell Nevus Syndrome 109400 PTCH2 603673
Basal Cell Nevus Syndrome 109400 SUFU 607035
Basal ganglia calcification, idiopathic, 1 213600 SLC20A2 158378
Beare-Stevenson syndrome 123790 FGFR2 176943
Beckwith-Wiedemann syndrome 130650 CDKN1C 600856
Beckwith-Wiedemann syndrome 130650 NSD1 606681
Bent bone dysplasia syndrome 614592 FGFR2 176943
Bernard-Soulier syndrome A1 (recessive) 231200 GP1BA 606672
Bernard-Soulier syndrome A2 (dominant) 153670 GP1BA 606672
Bernard-Soulier syndrome B 231200 GP1BB 138720
Bernard-Soulier syndrome C 231200 GP9 173515
Bestrophinopathy, autosomal recessive 611809 BEST1 607854
Beta-Thalassemia 613985 HBB 141900
Bifid nose with or without anorectal and renal anomalies 608980 FREM1 608944
Bleeding disorder, platelet-type, 15 615193 ACTN1 102575
Bleeding disorder, platelet-type, 16, autosomal dominant 273800 ITGB3 173470
Blepharophimosis, epicanthus inversus, and ptosis 110100 FOXL2 605597
Bohring-Opitz syndrome 605039 ASXL1 612990
Boomerang dysplasia 603381 FLNB 603381
Brachydactyly B1 113000 ROR2 602337
Brachydactyly B2 611377 NOG 602991
Brachydactyly D 113200 HOXD13 142989
Brachydactyly E 113300 HOXD13 142989
Brachydactyly E2 613382 PTHLH 168470
Brachydactyly-syndactyly syndrome 610713 HOXD13 142989
Brachyolmia 3 113500 trPV4 605427
Branchiootic syndrome 1 602588 EYA1 601653
Branchiootorenal syndrome 1, with or without cataracts 113650 EYA1 601653
Branchiootorenal syndrome 2 610896 SIX5 600963
Branchiootorenal syndrome 3 113650 SIX1 601205
Breast cancer 114480 TP53 191170
Breast cancer susceptibility to 114480 ATM 607585
Breast cancer, susceptibility to 114480 PALB2 610355
Breast-Ovarian cancer, familial 1 604370 BRCA1 113705
Breast-Ovarian cancer, familial 2 612555 BRCA2 600185
Breast-Ovarian cancer, familial 3 613399 RAD51C 602774
Breast-ovarian cancer, familial, 4 614291 RAD51D 602954
Brittle cornea syndrome 229200 ZNF469 612078
Bronchiectasis with or without elevated sweat chloride 1 211400 SCNN1B 600760
Bronchiectasis with or without elevated sweat chloride 2 613021 SCNN1A 600228
Bronchiectasis with or without elevated sweat chloride 3 613071 SCNN1G 600761
Brown-Vialetto-Van Laere syndrome 1 211530 SLC52A3 613350
Brown-Vialetto-Van Laere syndrome 2 614707 SLC52A2
 607882
Bruck syndrome 2 609220 PLOD2 601865
Brugada syndrome 1 601144 SCN5A 600163
Brugada syndrome 5 612838 SCN1B 600235
Brugada syndrome 9 616399 KCND3 605411
Budd-Chiari syndrome 600880 JAK2 147796
Budd-Chiari syndrome 600880 F5 612309
Butyrylcholinesterase deficiency 617936 BCHE 177400
C syndrome 211750 CD96 606037
CADASIL 125310 NOTCH3 600276
Caffey disease 114000 COL1A1 120150
Campomelic dysplasia 114290 SOX9 608160
CAPOS syndrome 601338 ATP1A3 182350
CARASIL 600142 HtrA1 602194
Cardiac valvular dysplasia, X-linked 314400 FLNA 300017
Cardiofaciocutaneous syndrome 115150 BRAF 164757
Cardiofaciocutaneous syndrome 3 609942 MAP2K1 176872
Cardiofaciocutaneous syndrome 4 615280 MAP2K2 601263
Cardiomyopathy, dilated, 1A 115200 LMNA 150330
Cardiomyopathy, dilated, 1E 601154 SCN5A 600163
Cardiomyopathy, dilated, 1L 606685 SGCD 601411
Cardiomyopathy, dilated, 1NN 615916 RAF1 164760
Cardiomyopathy, dilated, 1U 613694 PSEN1 104311
Cardiomyopathy, dilated, 1X 611615 FKTN 607440
Cardiomyopathy, dilated, 3B 302045 DMD 300377
Cardiomyopathy, familial hypertrophic 192600 CAV3 601253
Cardiomyopathy, hypertrophic 6 600858 PRKAG2 602743
Cardiomyopathy, hypertrophic, 25 607487 TCAP 604488
Carotid intimal medial thickness 1 609338 PPARG 601487
Carpal tunnel syndrome, familial 115430 Ttr 176300
Cataract 11, multiple types 610623 PITX3 602669
Cataract 12 611597 BFSP2 603212
Cataract 15, multiple types 604219 MIP 154050
Cataract 6, multiple types 116600 EPHA2 176946
Cataract with late-onset corneal dystrophy 106210 PAX6 607108
Caudal regression syndrome 182940 VANGL1 610132
Celiac disease 212750 HLA-DQ2 604305
Central hypoventilation syndrome, congenital 209880 RET 164761
Central hypoventilation syndrome, congenital 209880 BDNF 113505
Central hypoventilation syndrome, congenital 209880 ASCL1 100790
Central hypoventilation syndrome, congenital, with or without Hirschsprung disease 209880 PHOX2B 603851
Cerebral amyloid angiopathy, PRNP 137440 PRNP 176640
Cerebrooculofacioskeletal syndrome 1 214150 ERCC6 609413
Cerebrotendinous xanthomatosis 213700 CYP27A1 606530
Ceroid lipofuscinosis, neuronal, 1 256730 PPT1 600722
Ceroid lipofuscinosis, neuronal, 11 614706 GRN 138945
Ceroid lipofuscinosis, neuronal, 2 204500 TPP1 607998
Ceroid lipofuscinosis, neuronal, 3 204200 CLN3 607042
CINCA syndrome 607115 NLRP3 606416
Cleft lip/palate-ectodermal dysplasia syndrome 225060 PVRL1 600644
Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800 PITX1 602149
Cockayne syndrome
216400 ERCC8 609412
Cockayne syndrome B 133540 ERCC6 609413
Codeine sensitivity / Debrisoquine sensitivity 608902 CYP2D6 124030
Coenzyme Q10 deficiency, primary, 1 607426 COQ2 609825
Coffin-Lowry syndrome 303600 RPS6KA3 300075
Cohen syndrome 216550 VPS13B 607817
Coloboma isolated 610210 MAF1 610210
Coloboma isolated 604295 VAX2 604295
Coloboma of optic nerve 120430 PAX6 607108
Coloboma, ocular 120200 PAX6 607108
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas 132600 MUTYH 604933
Colorectal cancer 114500 TP53 191170
Colorectal cancer, hereditary nonpolyposis, 1 120435 MSH2 609309
Colorectal cancer, hereditary nonpolyposis, 2 609310 MLH1 120436
Colorectal cancer, hereditary nonpolyposis, 5 614350 MSH6 600678
Colorectal cancer, hereditary nonpolyposis, type 4 614337 PMS2 600259
Colorectal cancer, hereditary nonpolyposis, type 6 614331 TGFBR2 190182
Combined oxidative phosphorylation deficiency 14 614946 FARS2 611592
Combined oxidative phosphorylation deficiency 19 615595 LYRM4 613311
Complement component 4, partial deficiency of 120790 SERPING1 606860
Cone-rod dystrophy 6 601777 GUCY2D 600179
Cone-rod dystrophy, X-linked, 1 304020 RPGR 312610
Congenital bilateral absence of the vas deferens (CBAVD) 277180 CFtr 602421
Congenital disorder of glycosylation Ia 212065 PMM2 601785
Congenital myopathy with excess of muscle spindles 218040 HRAS 190020
Congenital short bowel syndrome 300048 FLNA 300017
Convulsions, familial infantile with paroxysmal choreoathetosis 602066 PRRT2 614386
Coproporphyria 121300 CPOX 612732
Cornelia de Lange syndrome 5 300882 HDAC8 300269
Cornelia-de-Lange syndrome 1
 122470 NIPBL 608667
Cornelia-de-Lange syndrome 3 610759 SMC3 606062
Corpus callosum, partial agenesis of 304100 L1CAM 308840
Cortical dysplasia, complex, with other brain malformations 1 614039 TUBB3 602661
Cortical dysplasia, complex, with other brain malformations 4 615412 TUBG1 191135
Cortical dysplasia, complex, with other brain malformations 5 615763 TUBB2A 615101
Cortical dysplasia, complex, with other brain malformations 7 610031 TUBB2B 612850
Cortical dysplasia, complex, with other brain malformations 8 613180 TUBA8 605742
Cousin syndrome 260660 TBX15 604127
Cowden syndrome 1 158350 PTEN 601728
Cowden syndrome 2 612359 SDHB 185470
CPT deficiency, hepatic IA 255120 CPT1A 600528
CPT deficiency, hepatic, type II 600649 CPT2 600650
CPT II deficiency, lethal neonatal 608836 CPT2 600650
Craniofacial-deafness-hand syndrome 122880 PAX3 606597
Craniofrontonasal dysplasia 304110 EFNB1 300035
Craniometaphyseal dysplasia, autosomal recessive 218400 GJA1 121014
Creatine phosphokinase, elevated serum 123320 CAV3 601253
Creutzfeldt-Jakob disease 123400 PRNP 176640
Crigler-Najjar syndrome 218800 UGT1A1 191740
Crouzon syndrome 123500 FGFR2 176943
Currarino syndrome 176450 MNX1 142994
Cutaneous Malignant Melanoma 155601 CDKN2A 600160
Cutaneous Malignant Melanoma, susceptibility to, 10 615848 POT1 606478
Cutis laxa, autosomal dominant 2 614434 FBLN5 604580
Cutis laxa, autosomal recessive, IA 219100 FBLN5 604580
Cystic Fibrosis 219700 CFtr 602421
Cystinosis, nephropathic 219800 CTNS 606272
Cystinosis, ocular nonnephropathic 219750 CTNS 606272
Cystinuria 220100 SLC3A1 104614
Czech dysplasia 609162 COL2A1 120140
Dandy-Walker malformation 220200 FOXL2 605597
Danon disease 300257 LAMP2 309060
Darier Disease 124200 ATP2A2 108740
De Sanctis-Cacchione syndrome 133540 ERCC6 609413
Deafness, autosomal dominant 11 601317 MYO7A 276903
Deafness, autosomal dominant 17 603622 MYH9 160775
Deafness, autosomal dominant 23 605192 SIX1 601205
Deafness, autosomal dominant 3B 612643 GJB6 (Cx30) 604418
Deafness, autosomal dominant 65 616044 TBC1D24 613577
Deafness, autosomal recessive 1B 612645 GJB6 (Cx30) 604418
Deafness, autosomal recessive 2 600060 MYO7A 276903
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 600791 SLC26A4 605646
Deafness, autosomal recessive 86 614617 TBC1D24 613577
Deafness, digenic 1A 220290 GJB6 (Cx30) 604418
Deafness, neurosensory, autosomal recessive 220290 GJB2 (Cx26) 121011
Dejerine-Sottas disease 145900 EGR2 129010
Dejerine-Sottas disease 180800 PMP22 601097
Dementia, frontotemporal 600274 MAPT 157140
Dementia, frontotemporal 600274 PSEN1 104311
Dent disease 2 300555 OCRL1 300535
Dentatorubro-pallidoluysian atrophy 125370 ATN1 607462
Denys-Drash syndrome 194080 WT1 607102
Desmoid disease, hereditary 135290 APC 611731
Diabetes insipidus, nephrogenic 304800 AVPR2 300538
Diabetes insipidus, nephrogenic 304800 AQP2 107777
Diabetes mellitus, insulin-dependent, 2 125852 INS 176730
Diabetes mellitus, insulin-dependent, 20 612520 HNF1A 142410
Diabetes mellitus, ketosis-prone 612227 PAX4 167413
Diabetes mellitus, noninsulin-dependent 125853 HNF1B 189907
Diabetes mellitus, noninsulin-dependent 125853 PAX4 167413
Diabetes mellitus, noninsulin-dependent, 2 125853 HNF1A 142410
Diabetes mellitus, noninsulin-dependent, late onset 125853 GCK 138079
Diabetes mellitus, permanent neonatal 606176 ABCC8 600509
Diabetes mellitus, permanent neonatal 606176 GCK 138079
Diabetes mellitus, permanent neonatal 606176 KCNJ11 600937
Diabetes mellitus, transient neonatal 2 610374 ABCC8 600509
Diabetes mellitus, transient neonatal, 3 610582 KCNJ11 600937
Diastrophic dysplasia 222600 SLC26A2 606718
DiGeorge syndrome 188400 TBX1 602054
Digital arthropathy-brachydactyly, familial 606835 trPV4 605427
Dowling-Degos disease 1 179850 KRT5 148040
Dravet syndrome 607208 SCN1A 182389
Duane-radial ray syndrome 607323 SALL4 607343
Dubin-Johnson syndrome 237500 ABCC2 601107
Dysautonomia, familial 223900 IKBKAP 603722
Dysfibrinogenemia 202400 FGG 134850
Dysfibrinogenemia 202400 FGB 134830
Dysfibrinogenemia, congenital 616004 FGA 134820
Dyschromatosis symmetrica hereditaria 127400 ADAR 146920
Dyschromatosis universalis hereditaria 3 615402 ABCB6 605452
Dysprothrombinemia/Hypoprothrombinemia 613679 F2 176930
Dysprothrombinemia/Hypoprothrombinemia 613679 F2 176930
Dystonia 128100 TOR1A 605204
Dystonia 11 159900 SGCE 604149
Dystonia 25 615073 GNAL 139312
Dystonia 6, torsion 602629 THAP1 609520
Dystonia 9 601042 SLC2A1 138140
Dystonia-12 128235 ATP1A3 182350
Dystonia, DOPA-responsive, with or without hyperphenylalaninemia 128230 GCH1 600225
Dystransthyretinemic hyperthyroxinemia 145680 Ttr 176300
Ectodermal dysplasia 1, hypohidrotic, X-linked 305100 EDA 300451
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant 129490 EDAR 604095
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive 224900 EDAR 604095
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant 129490 EDARADD 606603
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive 614941 EDARADD 606603
Ectodermal dysplasia 2, Clouston type 129500 GJB6 (Cx30) 604418
Ectodermal dysplasia 3, Witkop type 189500 MSX1 142983
Ectodermal dysplasia-syndactyly syndrome 1 613573 PVRL4 609607
Ectodermal dysplasia, anhidrotic, lymphedema and immunodeficiency 300301 IKBKG 300248
Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency 612132 NFKBIA 164008
Ectodermal dysplasia, hypohidrotic, with immune deficiency 300291 IKBKG 300248
Ectopia lentis, familial 129600 FBN1 134797
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292 TP63 603273
Ehlers-Danlos syndrome II 130010 COL5A1 120215
Ehlers-Danlos syndrome IV 130050 COL3A1 120180
Ehlers-Danlos syndrome VIIA 130060 COL1A1 120150
Ehlers-Danlos syndrome VIIB 130060 COL1A2 120160
Ehlers-Danlos syndrome VIIC 225410 ADAMTS2 604539
Ehlers-Danlos syndrome, cardiac valvular form 225320 COL1A2 120160
Ehlers-Danlos syndrome, musculocontractural type 1 601776 CHST14 608429
Eiken syndrome 600002 PTHR1 168468
Elliptocytosis-3 616649 SPTB 182870
Ellis-van Creveld syndrome 225500 EVC 604831
Ellis-van Creveld syndrome 225500 EVC2 607261
Emery-Dreifuss muscular dystrophy 1, X-linked 310300 EMD 300384
Emery-Dreifuss muscular dystrophy 2, AD 181350 LMNA 150330
Emery-Dreifuss muscular dystrophy 3, AR 616516 LMNA 150330
Encephalopathy, acute, infection-induced, 4, susceptibility to 614212 CPT2 600650
Encephalopathy, neonatal severe 300673 MECP2 300005
Encephalopathy, progressive, with or without lipodystrophy 615924 BSCL2 606158
Endometrial cancer, familial 608089 MSH6 600678
Endometrial carcinoma 608089 CDH1 192090
Enhanced S-cone syndrome (Goldmann-Favre syndrome) 268100 NR2E3 604485
Enlarged vestibular aqueduct, digenic 600791 KCNJ10 602208
Epidermodysplasia verruciformis 226400 TMC8 605829
Epidermodysplasia verruciformis 226400 TMC6 605828
Epidermolysis bullosa simplex-MP 131960 KRT5 148040
Epidermolysis bullosa simplex, Dowling-Meara type 131760 KRT5 148040
Epidermolysis bullosa simplex, Koebner type 131900 KRT5 148040
Epidermolysis bullosa simplex, recessive 1 601001 KRT5 148040
Epidermolysis bullosa simplex, Weber-Cockayne type 131800 KRT5 148040
Epidermolytic hyperkeratosis 113800 KRT1 139350
Epidermylysis bullosa simplex-MCR 609352 KRT5 148040
Epilepsy of Lafora 254780 EPM2A 607566
Epilepsy of Lafora 254780 NHLRC1 608072
Epilepsy of Unverricht and Lundborg 254800 CSTB 601145
Epilepsy, benign neonatal 1 121200 KCNQ2 602235
Epilepsy, familial temporal lobe, 1 600512 LGI1 604619
Epilepsy, familial temporal lobe, 5 614417 CPA6 609562
Epilepsy, familial temporal lobe, 7 616436 RELN 600514
Epilepsy, focal, with speech disorder and with or without mental retardation 245570 GRIN2A 138253
Epilepsy, generalized with febrile seizures plus (GEFS+) 1 604233 SCN1B 600235
Epilepsy, generalized with febrile seizures plus (GEFS+) 2 604403 SCN1A 182389
Epilepsy, generalized with febrile seizures plus (GEFS+) 3 611277 GABRG2 137164
Epilepsy, generalized with febrile seizures plus (GEFS+) 5 613060 GABRD 137163
Epilepsy, generalized with febrile seizures plus, type 7 613863 SCN9A 603415
Epilepsy, childhood absence, susceptibility to, 2 607681 GABRG2 137164
Epilepsy, idiopathic generalized, 11 607628 CLCN2 600570
Epilepsy, idiopathic generalized, 8 612899 CASR 601199
Epilepsy, idiopathic generalized, susceptibility to, 9 607682 CACNB4 601949
Epilepsy, juvenile absence, susceptibility to, 1 608815 EFHC1 608815
Epilepsy, juvenile absence, susceptibility to, 2 607628 CLCN2 600570
Epilepsy, juvenile myoclonic 6 607682 CACNB4 601949
Epilepsy, juvenile myoclonic 8 607628 CLCN2 600570
Epilepsy, juvenile myoclonic, susceptibility to, 5 611136 GABRA1 137160
Epilepsy, nocturnal frontal lobe 3 605375 CHRNB2 118507
Epilepsy, nocturnal frontal lobe, 1 600513 CHRNA4 118504
Epilepsy, nocturnal frontal lobe, 4 610353 CHRNA2 118502
Epilepsy, nocturnal frontal lobe, 5
 615005 KCNT1 608167
Epilepsy, progressive myoclonic, 10 616640 PRDM8 616639
Epilepsy, pyriodoxine-dependent 266100 ALDH7A1 107323
Epileptic encephalopathy, early infantile 01 308350 ARX 300382
Epileptic encephalopathy, early infantile 11 613721 SCN2A 182390
Epileptic encephalopathy, early infantile 14 614959 KCNT1 608167
Epileptic encephalopathy, early infantile 16 615338 TBC1D24 613577
Epileptic encephalopathy, early infantile 19 615744 GABRA1 137160
Epileptic encephalopathy, early infantile 2 300672 CDKL5 300203
Epileptic encephalopathy, early infantile 24 615871 HCN1 602780
Epileptic encephalopathy, early infantile 4 612164 STXBP1 602926
Epileptic encephalopathy, early infantile 5 613477 SPTAN1 182810
Epileptic encephalopathy, early infantile 7 613720 KCNQ2 602235
Epileptic encephalopathy, early infantile 9 300088 PCDH19 300460
Epileptic encephalopathy, Lennox Gastaut type 606369 MAPK10 602897
Epiphyseal dysplasia, multiple, 1 132400 COMP 600310
Epiphyseal dysplasia, multiple, 4 226900 SLC26A2 606718
Epiphyseal dysplasia, multiple, with myopia and deafness 132450 COL2A1 120140
Episodic Ataxia 2 108500 CACNA1A 601011
Episodic Ataxia 5 613855 CACNB4 601949
Episodic Ataxia 6 612656 SLC1A3 600111
Episodic ataxia/myokymia syndrome 160120 KCNA1 176260
Episodic kinesigenic dyskinesia 1 128200 PRRT2 614386
Episodic pain syndrome, familial, 1 615040 trPA1 604775
Episodic pain syndrome, familial, 2 615551 SCN10A 604427
Episodic pain syndrome, familial, 3 615552 SCN11A 604385
Epstein syndrome 153650 MYH9 160775
Erythermalgia 133020 SCN9A 603415
Erythrocytosis, familial, 1 133100 EPOR 133171
Erythrocytosis, familial, 5 133170 EPO 133170
Erythrokeratodermia variabilis et progressiva 133200 GJA1 121014
Esophageal cancer 133239 TGFBR2 190182
Exudative vitreoretinopathy 1 133780 FZD4 604579
Exudative vitreoretinopathy 2, X-linked 310600 NDP 300658
Exudative vitreoretinopathy 4 601813 LRP5 603506
Exudative vitreoretinopathy 5 613310 TSPAN12 613138
Exudative vitreoretinopathy 6 616468 ZNF408 616454
Exudative vitreoretinopathy 7 617572 CTNNB1 116806
Fabry disease 301500 GLA 300644
Facioscapulohumeral dystrophy 2, digen 158901 SMCHD1 614982
Facioscapulohumeral Muscular Dystrophy 1 158900 D4Z4 REPEAT 606009
Factor V deficiency 227400 F5 612309
Factor VII deficiency 227500 F7 613878
Factor X deficiency 227600 F10 613872
Factor XI deficiency 612416 F11 264900
Factor XII deficiency 234000 F12 610619
Failure of tooth eruption, primary 125350 PTHR1 168468
Familial cold urticaria 120100 NLRP3 606416
Familial cold urticaria 611762 NLRP12 609648
Familial Mediterranean Fever 249100 MEFV 608107
Fanconi anemia, complementation group D1 605724 BRCA2 600185
Fanconi anemia, complementation group N 610832 PALB2 610355
Fanconi anemia, complementation group O 613399 RAD51C 602774
Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 616026 HNF4A 600281
Fanconi-Bickel syndrome 227810 SLC2A2 138160
Fatty liver disease, nonalcoholic, susceptibility to, 1 613282 PNPLA3 609567
Fazio-Londe Disease 211500 SLC52A3 613350
Febrile seizures, familial, 11 614418 CPA6 609562
Fechtner syndrome 153640 MYH9 160775
Fetal akinesia deformation sequence 208150 RAPSN 601592
Fetal akinesia deformation sequence 208150 DOK7 610285
Fetal akinesia deformation sequence 208150 MUSK 601296
Fetal akinesia deformation sequence 208150 MYOD1 159970
FG syndrome 2 300321 FLNA 300017
Fibrodysplasia ossificans progressiva 135100 ACVR1 102576
Fibromatosis, gingival 135300 SOS1 182530
Fibrosis of extraocular muscles, congenital, 3A 600638 TUBB3 602661
Focal cortical dysplasia, Taylor balloon cell type 607341 TSC1 605284
Focal dermal hypoplasia 305600 PORCN 300651
Foveal hyperplasia 136520 PAX6 607108
Fragile X syndrome A 300624 FMR1 309550
Fragile X-associated tremor/ataxia syndrome 300623 FMR1 309550
Frank-ter Haar syndrome 249420 SH3PXD2B 613293
Frasier syndrome 136680 WT1 607102
Friedreich ataxia 229300 FXN1 606829
Frontometaphyseal dysplasia 305620 FLNA 300017
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911 CHCHD10 615903
Frontotemporal lobar degeneration 605078 TARDBP 612069
Frontotemporal lobar degeneration with ubiquitin-positive inclusions 607485 GRN 138945
Fructose intolerance 229600 ALDOB 612724
Fuhrmann syndrome 228930 WNT7A 601570
Fumarase deficiency 606812 FH 136850
Galactosemia 230400 GALT 606999
Gallbladder disease 1 600803 ABCB4 171060
Gastric Cancer 137215 CDH1 192090
Gastrointestinal stromal tumor 606764 SDHB 185470
Gastrointestinal stromal tumor 606764 SDHC 602413
Gastrointestinal stromal tumor 606764 SDHD 602690
Gaucher disease, type I 230800 GBA 606463
Geleophysic dysplasia 2 614185 FBN1 134797
Giant axonal neuropathy 1 256850 GAN 605379
Gilbert syndrome 143500 UGT1A1 191740
Gilles-de-la-Tourette syndrome 137580 SLItrK1 609678
Gillespie syndrome 206700 PAX6 607108
Gitelman syndrome 263800 SLC12A3 600968
Glanzmann thrombasthenia 273800 ITGB3 173470
Glaucoma 1, open angle, E 137760 OPTN 602432
Glaucoma 3, primary congenital, D 613086 LTBP2 602091
Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset 231300 CYP1B1 601771
Glioblastoma 3 613029 BRCA2 600185
Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886 UMOD 191845
Glucose-6-Phosphate Dehydrogenase Deficiency 300908 G6PD 305900
GLUT1 deficiency syndrome 1, infantile onset, severe 606777 SLC2A1 138140
GLUT1 deficiency syndrome 2, childhood onset 612126 SLC2A1 138140
Glutaric acidemia type 1 231670 GCDH 608801
Glycine encephalopathy 605899 AMT 238310
Glycine encephalopathy 605899 GLDC 238300
Glycogen storage disease Ia 613742 G6PC 613742
Glycogen storage disease Ib/1c/1d 602671 SLC37A4 602671
Glycogen storage disease II (Pompe) 232300 GAA 606800
Glycogen storage disease III 232400 AGL 610860
Glycogen storage disease IV 232500 GBE1 607839
Glycogen storage disease of heart, lethal congenital 261740 PRKAG2 602743
GM1-gangliosidosis, type I 230500 GLB1 611458
GM1-gangliosidosis, type II 230600 GLB1 611458
GM1-gangliosidosis, type III 230650 GLB1 611458
Gnathodiaphyseal dysplasia 166260 ANO5 608662
Growth hormone deficiency, isolated, II 173100 GH1 139250
Growth hormone deficiency, isolated, IA 262400 GH1 139250
Growth hormone deficiency, isolated, IB 612781 GHRHR 139191
Growth hormone deficiency, isolated, IB 612781 GH1 139250
Growth hormone deficiency, isolated, III 307200 BTK 300300
Growth hormone insensitivity with immunodeficiency 245590 STAT5B 604260
Growth hormone insensitivity, partial 604271 GHR 600946
Growth restriction, severe, with distinctive facies 616489 IGF2 147470
Hailey Hailey disease 169600 ATP2C1 604384
Hajdu-Cheney syndrome 102500 NOTCH2 600275
HARP syndrome 607236 PANK2 606157
Hartsfield syndrome 615465 FGFR1 136350
Hay-Wells syndrome 603543 TP63 603273
Heart block 113900 SCN5A 600163
Heart-hand syndrome, Slovenian type 610140 LMNA 150330
Heimler syndrome 1 234580 PEX1 602136
Hemochromatosis 235200 HFE 613609
Hemochromatosis, type 2A 602390 HFE2 608374
Hemochromatosis, type 2B 613313 HAMP 606464
Hemochromatosis, type 3 235200 TFR2 604720
Hemochromatosis, type 4 606069 SLC40A1 604653
Hemochromatosis, type 5 615517 FTH1 134770
Hemophagocytic Lymphohistiocytosis 2 603553 PRF1 170280
Hemophagocytic Lymphohistiocytosis 3 608898 UNC13D 608897
Hemophagocytic Lymphohistiocytosis 4 603552 STX11 605014
Hemophagocytic Lymphohistiocytosis 5 601717 STXBP2 613101
Hepatitis C Virus treatment Response 609532 IL28B 607402
Hereditary breast and ovarian cancer syndrome 251260 NBN 602667
Hereditary motor and sensory neuropathy IIc 606071 trPV4 605427
Hereditary motor and sensory neuropathy VIA 601152 MFN2 608507
Hereditary motor and sensory neuropathy, Okinawa type 604484 TFG 602498
Hermansky-Pudlak Syndrome 1 203300 HPS1 604982
Hermansky-Pudlak Syndrome 2 608233 AP3B1 603401
Hermansky-Pudlak Syndrome 3 614072 HPS3 606118
Hermansky-Pudlak Syndrome 4 614073 HPS4 606682
Hermansky-Pudlak Syndrome 7 614076 DTNBP1 607145
Heterotopia, periventricular 300049 FLNA 300017
Hirschsprung disease, susceptibility to, 1 142623 RET 164761
Holoprosencephaly 3 142945 SHH 600725
Holoprosencephaly 4 142946 TGIF 602630
Holoprosencephaly 7 610828 PTCH1 601309
Holt-Oram syndrome 142900 TBX5 601620
Homocystinuria due to MTHFR deficiency 236250 MTHFR 607093
Huntington disease 143100 HTT 613004
Huntington disease like 2 606430 JPH3 605268
Hutchinson-Gilford progeria syndrome 176670 LMNA 150330
Hydranencephaly with abnormal genitalia 300215 ARX 300382
Hydrocephalus 307000 L1CAM 308840
Hyper-IgD syndrome 260920 MVK 251170
Hyper-IgE recurrent infection syndrome 147060 STAT3 102582
Hyperbilirubinemia, familial transient neonatal 237900 UGT1A1 191740
Hypercalcemia, infantile 143880 CYP24A1 126065
Hyperekplexia 149400 GLRA1 138491
Hyperekplexia 2, autosomal recessive 614619 GLRB 138492
Hyperekplexia 3 614618 SLC6A5 604159
Hypercholesterinemia
STAP1 604298
Hypercholesterolemia 143890 LDLR 606945
Hypercholesterolemia 3 603776 PCSK9 607786
Hypercholesterolemia, familial, 4 603813 LDLRAP1 605747
Hyperinsulinemic hypoglycemia, familial, 1 256450 ABCC8 600509
Hyperinsulinemic hypoglycemia, familial, 2 601820 KCNJ11 600937
Hyperinsulinemic hypoglycemia, familial, 3 602485 GCK 138079
Hyperinsulinemic hypoglycemia, familial, 4 609975 HADH 601609
Hyperinsulinism-hyperammonemia syndrome 606762 GLUD1 138130
Hyperkalemic periodic paralysis, type 2 170500 SCN4A 603967
Hyperlipoproteinemia 107741 APOE 107741
Hyperornithinemia-Hyperammonemia-Homocitrullinemina Syndrom 238970 SLC25A15 603861
Hyperostosis, endosteal 144750 LRP5 603506
Hyperoxaluria, primary I 259900 AGXT 604285
Hyperoxaluria, primary II 260000 GRHPR 604296
Hyperoxaluria, primary III 613616 HOGA1 613597
Hyperparathyroidism-jaw tumor syndrome 145001 CDC73 607393
Hyperparathyroidism, familial primary 145000 CDC73 607393
Hyperparathyroidism, neonatal 239200 CASR 601199
Hyperphenylalaninemia, BH4-deficient, B 233910 GCH1 600225
Hyperphenylalaninemia, non-PKU mild 261600 PAH 612349
Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy 605115 NR3C2 600983
Hypertriglyceridemia, transient infantile 614480 GPD1 138420
Hyperuricemic nephropathy, familial juvenile 1 162000 UMOD 191845
Hypoaldosteronism, congenital 203400 CYP11B2 124080
Hypoalphalipoproteinemia 604091 APOA1 107680
Hypocalcemia, autosomal dominant 601198 CASR 601199
Hypocalcemia, autosomal dominant 2 615361 GNA11 139313
Hypocalciuric hypercalcemia, type I 145980 CASR 601199
Hypocalciuric hypercalcemia, type II 145981 GNA11 139313
Hypoglycemia of infancy, leucine-sensitive 240800 ABCC8 600509
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700 KAL1 300836
Hypogonadotropic hypogonadism 2 with or without anosmia 147950 FGFR1 136350
Hypogonadotropic hypogonadism 3 with or without anosmia 244200 PROKR2 607123
Hypogonadotropic hypogonadism 4 with or without anosmia 610628 PROK2 607002
Hypogonadotropic hypogonadism 5 with or without anosmia 612370 CHD7 608892
Hypogonadotropic hypogonadism 6 with or without anosmia 612702 FGF8 600483
Hypochondroplasia 146000 FGFR3 134934
Hypokalemic periodic paralysis, type 1 170400 CACNA1S 114208
Hypomagnesemia 3, renal 248250 CLDN16 603959
Hypoparathyroidism 146200 PTH 168450
Hypoparathyroidism, familial isolated 146200 GCM2 603716
Hypophosphatasia, adult 146300 ALPL 171760
Hypophosphatasia, infantile 241500 ALPL 171760
Hypophosphatemic rickets 307800 PHEX 300550
Hypophosphatemic rickets, autosomal dominant 193100 FGF23 605380
Hypoplastic left heart syndrome 1 241500 GJA1 121014
Hypospadias 1, X-linked 300633 AR 313700
Charcot-Marie-Tooth 1B 118200 MPZ 159440
Charcot-Marie-Tooth 1D 607678 EGR2 129010
Charcot-Marie-Tooth 1E 118300 PMP22 601097
Charcot-Marie-Tooth 1F 607734 NEFL 162280
Charcot-Marie-Tooth 2A 609260 MFN2 608507
Charcot-Marie-Tooth 2B1 605588 LMNA 150330
Charcot-Marie-Tooth 2B1 600882 RAB7A 602298
Charcot-Marie-Tooth 4J 611228 FIG4 609390
Charcot-Marie-Tooth disease, axonal, type 2F 606595 HSPB1 602195
Charcot-Marie-Tooth disease, axonal, type 2L 608014 HSPB8 608014
Charcot-Marie-Tooth disease, axonal, type 2V 616491 NAGLU 609701
Charcot-Marie-Tooth disease, axonal, type 2X 616668 SPG11 610844
Charcot-Marie-Tooth disease, dominant intermediate D 607791 MPZ 159440
Charcot-Marie-Tooth disease, recessive intermediate C 615376 PLEKHG5 611101
Charcot-Marie-Tooth disease, type 1C 601098 LITAF 603795
Charcot-Marie-Tooth disease, type 2D 601472 GARS 600287
Charcot-Marie-Tooth disease, type 2E 607684 NEFL 162280
Charcot-Marie-Tooth disease, type 2I 607677 MPZ 159440
Charcot-Marie-Tooth disease, type 2J 607736 MPZ 159440
Charcot-Marie-Tooth disease, type 2Y 616687 VCP 601023
Charcot-Marie-Tooth disease, type 4K 616684 SURF1 185620
Charcot-Marie-Tooth X-linked 302800 GJB1 304040
CHARGE syndrome 214800 CHD7 608892
Chilblain lupus 610448 trEX1 606609
Cholestasis, benign recurrent intrahepatic 243300 ATP8B1 602397
Cholestasis, benign recurrent intrahepatic, 2 605479 ABCB11 603201
Cholestasis, intrahepatic, of pregnancy, 1 147480 ATP8B1 602397
Cholestasis, intrahepatic, of pregnancy, 3 614972 ABCB4 171060
Cholestasis, progressive familial intrahepatic 1 211600 ATP8B1 602397
Cholestasis, progressive familial intrahepatic 2 601847 ABCB11 603201
Cholestasis, progressive familial intrahepatic 3 602347 ABCB4 171060
Cholesteryl ester storage disease 278000 LIPA 613497
Chondrodysplasia punctata 302950 ARSE 300180
Chondrodysplasia punctata, rhizomelic, type 1 215100 PEX7 601757
Chondrodysplasia, Blomstrand type 215045 PTHR1 168468
Chondrosarcoma 215300 EXT1 608177
Chorea, hereditary benign 118700 NKX2-1 600635
Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978 NKX2-1 600635
Choriodal dystrophy, central areolar 2 613105 PRPH2 179605
Choroideremia 303100 CHM 300390
Chronic infections, due to MBL deficiency 614372 MBL2 154545
IFAP syndrome with or without BRESHECK syndrome 308205 MBTPS2 300294
Ichthyosis bullosa of Siemens 146800 KRT2 600194
Ichthyosis histrix, Curth-Macklin type 146590 KRT1 139350
Ichthyosis, cyclic, with epidermolytic hyperkeratosis 607602 KRT1 139350
Ichthyosis, X-linked 308100 STS 300747
IMAGE syndrome 614732 CDKN1C 600856
Immunodeficiency 8 615401 CORO1A 605000
Immunodeficiency, common variable, 2 240500 TNFRSF13B 604907
Immunodeficiency, common variable, 3 613493 CD19 107265
Immunodeficiency, common variable, 7 614699 CR2 120650
Immunodeficiency, isolated 300584 IKBKG 300248
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 167320 VCP 601023
Incontinentia pigmenti 308300 IKBKG 300248
Infantile cerebellar-retinal degeneration 614559 ACO2 100850
Insensitivity to pain, congenital 243000 SCN9A 603415
Insomnia, fatal familial 600072 PRNP 176640
Insulin resistance, severe, digenic 604367 PPARG 601487
Intestinal pseudoobstruction, neuronal 300048 FLNA 300017
Invasive pneumococcal disease, recurrent isolated, 2 300640 IKBKG 300248
Iridogoniodysgenesis, type 1 601631 FOXC1 601090
Iridogoniodysgenesis, type 2 137600 PITX2 601542
Iron-refractory, iron deficiency anemia 206200 TMPRSS6 609862
IVIC syndrome 607343 SALL4 607343
Jackson-Weiss syndrome 123150 FGFR2 176943
Jackson-Weiss syndrome 123150 FGFR1 136350
Jervell and Lange-Nielsen syndrome 220400 KCNQ1 607542
Jervell and Lange-Nielsen syndrome 2 612347 KCNE1 176261
Joubert syndrome 1 213300 INPP5E 613037
Joubert syndrome 10 311200 OFD1 300170
Keratitis 148190 PAX6 607108
Keratosis follicularis spinulosa decalvans, X-linked 308800 MBTPS2 300294
Keratosis palmoplantaris striata III 607654 KRT1 139350
Keutel syndrome 245150 MGP 154870
Klippel-Feil syndrome 3, autosomal dominant 613702 GDF3 606522
Kniest dysplasia 156550 COL2A1 120140
Kowarski syndrome 262650 GH1 139250
Krabbe disease 245200 GALC 606890
L-2-hydroxyglutaric aciduria 236792 L2HGDH 609584
L-ferritin deficiency, dominant and recessive 615604 FTL 134790
LADD syndrome 149730 FGFR2 176943
LADD syndrome 149730 FGFR3 134934
Langer mesomelic dysplasia 249700 SHOX/SHOY 312865
Laron dwarfism 262500 GHR 600946
Larsen syndrome 150250 FLNB 603381
Lateral meningocele syndrome 130720 NOTCH3 600276
Leber congenital amaurosis 1 204000 GUCY2D 600179
Leber congenital amaurosis 2 204100 RPE65 204100
Legg-Calve-Perthes disease 150600 COL2A1 120140
Leigh syndrome 256000 SURF1 185620
Leigh syndrome 256000 COX10 602125
LEOPARD syndrome 1 151100 PTPN11 176876
LEOPARD syndrome 2 611554 RAF1 164760
LEOPARD syndrome 3 613707 BRAF 164757
Leri-Weill Dyschondrosteosis 127300 SHOX/SHOY 312865
Leukocyte adhesion deficiency type 1 116920 ITGB2 600065
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or Hypogonadotropic hypodonadism 607694 POLR3A 614258
Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or Hypogonadotropic hypodonadism 614381 POLR3B 614366
Leukoencephalopathy with ataxia 615651 CLCN2 600570
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation 611105 DARS2 610956
Leukoencephalopathy, diffuse hereditary, with spheroids 221820 CSF1R 164770
Li-Fraumeni Syndrome 151623 TP53 191170
Liddle syndrome 177200 SCNN1B 600760
Liddle syndrome 177200 SCNN1G 600761
Liebenberg syndrome 186550 PITX1 602149
Limb-mammary syndrome 604292 TP63 603273
Lipodystrophy, congenital generalized, type 2 269700 BSCL2 606158
Lipodystrophy, familial partial, 2 151660 LMNA 150330
Lipodystrophy, familial partial, 3 604367 PPARG 601487
Lipoprotein glomerulopathy 611771 APOE 107741
Lissencephaly 247200 YWHAE 605066
Lissencephaly 1 607432 PAFAH1B1 601545
Lissencephaly 2 257320 RELN 600514
Lissencephaly 3 611603 TUBA1A 602529
Lissencephaly 5 615191 LAMB1 150240
Lissencephaly, X-linked 1 300067 DCX 300121
Lissencephaly, X-linked 2 300215 ARX 300382
Loeys-Dietz syndrome 1 609192 TGFBR1 190181
Loeys-Dietz syndrome 2 610168 TGFBR2 190182
Loeys-Dietz syndrome 3 613795 SMAD3 603109
Loeys-Dietz syndrome 4 614816 TGFB2 190220
Long QT syndrome 1 192500 KCNQ1 607542
Long QT syndrome 2 613688 KCNH2 152427
Long QT syndrome 3 603830 SCN5A 600163
Long QT syndrome 5 613695 KCNE1 176261
Long QT syndrome 6 613693 KCNE2 603796
Long QT syndrome 9 611818 CAV3 601253
Lowe syndrome 309000 OCRL1 300535
Lujan Fryns syndrome 309520 MED12 300188
Lymphangioleiomyomatosis 606690 TSC1 605284
Macrocephaly/autism syndrome 605309 PTEN 601728
Macrothrombocytopenia and progressive sensorineural deafness 153650 MYH9 160775
Macular degeneration, age-related, 3 608895 FBLN5 604580
Macular degeneration, X-linked atrophic 300834 RPGR 312610
Macular dystrophy, patterned, 1 169150 PRPH2 179605
Macular dystrophy, vitelliform, 2 153700 BEST1 607854
Macular dystrophy, vitelliform, 3 608161 PRPH2 179605
Malouf syndrome 212112 LMNA 150330
Mandibuloacral dysplasia 248370 LMNA 150330
Manitoba oculotrichoanal syndrome 248450 FREM1 608944
Maple Syrup Urine Disease Ia 248600 BCKDHA 608348
Maple Syrup Urine Disease Ib 248600 BCKDHB 248611
Maple Syrup Urine Disease II 248600 DBT 248610
Marden-Walker syndrome 248700 PIEZO2 613629
Marfan syndrome 154700 FBN1 134797
Marinesco-Sjogren Syndrome 248800 SIL1 608005
MASA syndrome 303350 L1CAM 308840
MASS syndrome 604308 FBN1 134797
Maturity-onset diabetes of the young 6 606394 NEUROD1 601724
Maturity-onset diabetes of the young, type 13 610582 KCNJ11 600937
Maturity-onset diabetes of the young, type 9 612225 PAX4 167413
May-Hegglin Anomaly 155100 MYH9 160775
McArdle Disease (Glycogen storage disease V) 232600 PYGM 608455
McCune-Albright syndrome 174800 GNAS 139320
McKusick-Kaufman syndrome 236700 MKKS 604896
McLeod syndrome 300842 XK 314850
Meacham syndrome 608978 WT1 607102
Meckel syndrome 1 249000 MKS1 609883
Medullary cystic kidney disease 2 603860 UMOD 191845
Medullary thyroid carcinoma 155240 RET 164761
Medulloblastoma 155255 BRCA2 600185
Megalencephalic Leukoenzephalopathy with subcortical cysts 604004 MLC1 605908
Melanoma and neural system tumor syndrome 155755 CDKN2A 600160
Melanoma, cutaneous malignant, susceptibility to, 8 614456 MITF 156845
Melnick-Needles syndrome 309350 FLNA 300017
Menkes disease 309400 ATP7A 300011
Mental retardation, autosomal dominant 16 614609 SMC1L1 (SMC1A) 300040
Mental retardation, autosomal recessive 7 611093 TUSC3 601385
Mental retardation, truncal obesity, retinal dystrophy, and micropenis 610156 INPP5E 613037
Mental retardation, X-linked 19 300844 RPS6KA3 300075
Mental retardation, X-linked syndromic, Christianson type 300243 SlC9A6 300231
Mental retardation, X-linked syndromic, Lubs type 300260 MECP2 300005
Mental retardation, X-linked syndromic, Nascimento type 300860 UBE2A 312180
Mental retardation, X-linked, syndromic 13 300055 MECP2 300005
Metachromatic leukodystrophy 250100 ARSA 607574
Metatropic dysplasia 156530 trPV4 605427
Methylmalonic aciduria and homocystinuria, cbIC 277400 MMACHC 609831
Methylmalonic aciduria and homocystinuria, cbIF 277380 LMBRD1 612625
Mevalonic aciduria 610377 MVK 251170
Microcephaly 1, primary, autosomal recessive 251200 MCPH1 607117
Microcephaly 2, primary, autosomal recessive 604317 WDR62 604317
Microcephaly 6, primary, autosomal recessive 608393 CENPJ 609279
Microphthalmia with coloboma 5 611638 SHH 600725
Microphthalmia with coloboma 6 613703 GDF3 606522
Microphthalmia, isolated 5 611040 MFRP 606227
Microphthalmia, isolated 7 613704 GDF3 606522
Microphthalmia, isolated, with coloboma 10 616428 RBP4 180250
Microphthalmia, isolated, with coloboma 7 614497 ABCB6 605452
Microphthalmia, syndromic 11 614402 VAX1 604294
Migraine, familial hemiplegic, 1 108500 CACNA1A 601011
Migraine, familial hemiplegic, 2 602481 ATP1A2 182340
Migraine, familial hemiplegic, 3 609634 SCN1A 182389
Miller syndrome 263750 DHODH 126064
Mismatch repair cancer syndrome 276300 MLH1 120436
Mismatch repair cancer syndrome 276300 MSH2 609309
Mismatch repair cancer syndrome 276300 PMS2 600259
Mismatch repair cancer syndrome 608089 MSH6 600678
Mitochondrial complex IV deficiency 220110 COX10 602125
Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700 POLG 174763
Mitochondrial DNA depletion syndrome 4B (MNGIE type) 203700 POLG 174763
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073 SUCLA2 603921
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245 C10ORF2 606075
Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459 POLG 174763
Miyoshi muscular dystrophy 1 254130 DYSF 603009
Miyoshi muscular dystrophy 3 613319 ANO5 608662
MODY 01 125850 HNF4A 600281
MODY 02 125851 GCK 138079
MODY 03 600496 HNF1A 142410
MODY 04 600733 PDX1 600733
MODY 07 610508 KLF11 603301
MODY 08 609812 CEL 114840
MODY 10 613370 INS 176730
MODY 11 613375 BLK 191305
Mowat-Wilson 235730 ZEB2 605802
Muckle-Wells Syndrome 191900 NLRP3 606416
Mucopolysaccharidosis Ih 607015 IDUA 252800
Mucopolysaccharidosis Ih/s 607015 IDUA 252800
Mucopolysaccharidosis IIIA (Sanfilippo A) 252900 SGSH 605270
Mucopolysaccharidosis IIIB 252920 NAGLU 609701
Mucopolysaccharidosis Is 607016 IDUA 252800
Mucopolysaccharidosis IVA 253000 GALNS 612222
Mucopolysaccharidosis type IVB (Morquio) 253010 GLB1 611458
Muir-Torre syndrome 158320 MLH1 120436
Muir-Torre syndrome 158320 MSH2 609309
Mulibrey nanism 605073 trIM37 605073
Mullerian aplasia and hyperandrogenism 158330 WNT4 603490
Multiple endocrine Neoplasia 1 131100 MEN1 613733
Multiple endocrine Neoplasia 2A 171400 RET 164761
Multiple endocrine Neoplasia 2B 162300 RET 164761
Multiple endocrine neoplasia, type IV 610755 CDKN1B 600778
Multiple pterygium syndrome, lethal type 253290 CHRNA1 100690
Multiple synostosis syndrome 1 186500 NOG 602991
Multiples Pterygium syndrome 265000 CHRNG 100730
Muscular dystrophy / dystroglycanopathy A1 236670 POMT1 607423
Muscular dystrophy / dystroglycanopathy A3 253280 POMGNT1 606822
Muscular dystrophy / dystroglycanopathy B1 613155 POMT1 607423
Muscular dystrophy / dystroglycanopathy B3 613151 POMGNT1 606822
Muscular dystrophy / dystroglycanopathy C3 613157 POMGNT1 606822
Muscular dystrophy Becker 300376 DMD 300377
Muscular dystrophy Duchenne 310200 DMD 300377
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150 POMT2 607439
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800 FKTN 607440
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153 FKRP 606596
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613158 POMT2 607439
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 613151 POMGNT1 606822
Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612 FKRP 606596
Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152 FKTN 607440
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158 POMT2 607439
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588 FKTN 607440
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155 FKRP 606596
Muscular dystrophy, congenital 613205 LMNA 150330
Muscular dystrophy, limb-girdle 1A 159000 MYOT 604103
Muscular dystrophy, limb-girdle 1B 159001 LMNA 150330
Muscular dystrophy, limb-girdle 1C 607801 CAV3 601253
Muscular dystrophy, limb-girdle 2A 253600 CAPN3 114240
Muscular dystrophy, limb-girdle 2B 253601 DYSF 603009
Muscular dystrophy, limb-girdle 2C 253700 SGCG 608896
Muscular dystrophy, limb-girdle 2D 608099 SGCA 600119
Muscular dystrophy, limb-girdle 2E 604286 SGCB 600900
Muscular dystrophy, limb-girdle 2F 601287 SGCD 601411
Muscular dystrophy, limb-girdle 2G 601954 TCAP 604488
Muscular dystrophy, limb-girdle 2K 609308 POMT1 607423
Muscular dystrophy, limb-girdle, type 2L 611307 ANO5 608662
Myasthenia gravis, neonatal transient 265000 CHRNG 100730
Myasthenic syndrome, asso. with episodic apnea 254210 CHAT 118490
Myasthenic syndrome, congenital, 10 254300 DOK7 610285
Myasthenic syndrome, congenital, 1A, slow-channel 601462 CHRNA1 100690
Myasthenic syndrome, congenital, 1B, fast-channel 608930 CHRNA1 100690
Myasthenic syndrome, congenital, 20, presynaptic 617143 SLC5A7 608761
Myasthenic syndrome, congenital, 22 616224 PREPL 609577
Myasthenic syndrome, congenital, 4A, slow-channel 605809 CHRNE 100725
Myasthenic syndrome, congenital, 4B, fast-channel 616324 CHRNE 100725
Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency 608931 CHRNE 100725
Myocarinfarctiondial 608446 ITGB3 173470
Myoclonic epilepsy with red ragged fibers 545000 MTTK 590060
Myoclonic epilepsy, infantile, familial 605021 TBC1D24 613577
Myoclonic epilepsy, juvenile, susceptibility to, 1 254770 EFHC1 608815
Myoglobinuria, acute recurrent, autosomal recessive 268200 LPIN1 605518
Myopathy due to CPT II deficiency 255110 CPT2 600650
Myopathy due to myoadenylate deaminase deficiency 615511 AMPD1 102770
Myopathy, distal, Tateyama type 614321 CAV3 601253
Myopathy, distal, with anterior tibial onset 606768 DYSF 603009
Myopathy, isolated mitochondrial, autosomal dominant 616209 CHCHD10 615903
Myopathy, myofibrillar, 3 609200 MYOT 604103
Myopathy, spheroid body 182920 MYOT 604103
Myotonia congenita Becker, recessive 255700 CLCN1 118425
Myotonia congenita Thomsen, dominant 160800 CLCN1 118425
Myotonic dystrophy I 160900 DMPK 605377
Myotonic dystrophy II 602668 CNBP 116955
Nanophthalmos 2 609549 MFRP 606227
NARP syndrome 551500 MTATP6 516060
Nemaline myopathy 4 609285 TPM2 190990
Nephrogenic syndrome of inappropriate antidiuresis 300539 AVPR2 300538
Nephrotic syndrome, type 1 256300 NPHS1 602716
Nephrotic syndrome, type 2 600995 NPHS2 604766
Nephrotic syndrome, type 4 256370 WT1 607102
Netherton syndrome 256500 SPINK5 605010
Neural tube defects 182940 VANGL1 610132
Neural tube defects, susceptibility to 236250 MTHFR 607093
Neuroaxonal dystrophy, infantile 1 256600 PLA2G6 603604
Neuroblastoma with Hirschsprung disease 613013 PHOX2B 603851
Neurodegeneration with brain iron accululation 5 300894 WDR45 300526
Neurodegeneration with brain iron accumulation 1 234200 PANK2 606157
Neurodegeneration with brain iron accumulation 2B 610217 PLA2G6 603604
Neurodegeneration with brain iron accumulation 3 606159 FTL 134790
Neurodegeneration with brain iron accumulation 4 614298 C19orf12 614297
Neurofibromatosis I 162200 NF1 613113
Neurofibromatosis-like syndrome; Legius syndrome 611431 SPRED1 609291
Neurofibromatosis-Noonan syndrome 601321 NF1 613113
Neurofibromatosis, familial spinal 193520 NF1 613113
Neurofibromatosis, type 2 101000 NF2 607379
Neuronopathy, distal hereditary motor, type VIIA 158580 SLC5A7 608761
Neuropathy, congenital hypomyelinating 605253 EGR2 129010
Neuropathy, distal hereditary motor, type IIA 158590 HSPB8 608014
Neuropathy, distal hereditary motor, type IIB 608634 HSPB1 602195
Neuropathy, distal hereditary motor, type VA 600794 BSCL2 606158
Neuropathy, distal hereditary motor, type VA 600794 GARS 600287
Neuropathy, distal hereditary motor, type VIIB 607641 DCTN1 601143
Neuropathy, hereditare sensory and autonomic II 201300 WNK1 605232
Neuropathy, hereditary sensory and autonomic I 162400 SPTLC1 605712
Neuropathy, hereditary sensory and autonomic V 608654 NGF 162030
Neuropathy, hereditary sensory and autonomic VII 615548 SCN11A 604385
Neuropathy, hereditary sensory, type ID 182600 SPG3A 606439
Neuropathy, hereditary, with liability to pressure palsies 162500 PMP22 601097
Neuropathy, hereditary, with or without age-related macular degeneration 608895 FBLN5 604580
Neuropathy, inflammatory demyelinating 139393 PMP22 601097
Neutropenia, cyclic 162800 ELANE 130130
Neutropenia, severe congenital 300299 WAS 300392
Neutropenia, severe congenital 1, AD 202700 ELANE 130130
Niemann Pick disease C1/D 257220 NPC1 607623
Niemann Pick disease C2 607625 NPC2 601015
Night blindness, congenital stationary, autosomal dominant 1 610445 RHO 180380
Nonaka myopathy 605820 GNE 603824
Noonan syndrome 1 163950 PTPN11 176876
Noonan syndrome 3 609942 KRAS 190070
Noonan syndrome 4 610733 SOS1 182530
Noonan syndrome 5 611553 RAF1 164760
Noonan syndrome 6 613224 NRAS 164790
Noonan syndrome 7 613706 BRAF 164757
Noonan syndrome 8 615355 RIT1 609591
Norrie disease 310600 NDP 300658
Obesity with impaired prohormone processing 600955 PCSK1 162150
Obesity, adrenal insufficiency, and red hair due to POMC deficiency 609734 POMC 176830
Obesity, autosomal dominant 601665 MC4R 155541
Obesity, early-onset, susceptibility to 601665 POMC 176830
Obesity, morbid, due to leptin deficiency 614962 LEP 164160
Obesity, morbid, due to leptin receptor deficiency 614963 LEPR 601007
Obesity, severe 601665 PPARG 601487
Obesity, severe, susceptibility to 601665 CARTPT 602606
Obesity, severe, susceptibility to, BMIQ9 602025 MC3R 155540
Obesity, susceptibility to, BMIQ12 600955 PCSK1 162150
Obesity, susceptibility to, BMIQ4 607447 UCP2 601693
Occipital horn syndrome 304150 ATP7A 300011
Ocular albinism type 1, Ocular albinism X-Linked 300500 GPR143 300500
Oculodentodigital dysplasia 164200 GJA1 121014
Oculodentodigital dysplasia, autosomal recessive 257850 GJA1 121014
Oculopharyngeal muscular dystrophy 164300 PABPN1 602279
Odontoonychodermal dysplasia 257980 WNT10A 606268
Ohdo syndrome, X-linked 300895 MED12 300188
Oligodontia-colorectal cancer syndrome 608615 AXIN2 604025
Omenn syndrome 603554 RAG1 179615
Omenn syndrome 603554 RAG2 179616
Ophthalmoplegia, progressive external 1 157640 POLG 174763
Opitz GBBB syndrome 300000 MID1 300552
Opitz-Kaveggia syndrome 305450 MED12 300188
Optic atrophy 3 with cataract 165300 OPA3 606580
Optic atrophy 7 612989 TMEM126A 612988
Optic atrophy 9 616289 ACO2 100850
Optic atrophy plus syndrome 125250 OPA1 605290
Optic nerve hypoplasia 165550 PAX6 607108
Orofacial cleft 5 608874 MSX1 142983
Orofaciodigital syndrome I 311200 OFD1 300170
Osseous heteroplasia, progressive 166350 GNAS 139320
Osteoarthritis with mild chondrodysplasia 604864 COL2A1 120140
Osteogenesis imperfecta I 166200 COL1A1 120150
Osteogenesis imperfecta II 166210 COL1A1 120150
Osteogenesis imperfecta II 166210 COL1A2 120160
Osteogenesis imperfecta III 259420 COL1A1 120150
Osteogenesis imperfecta III 259420 COL1A2 120160
Osteogenesis imperfecta IV 166220 COL1A1 120150
Osteogenesis imperfecta IV 166220 COL1A2 120160
Osteoglophonic dysplasia 166250 FGFR1 136350
Osteochondromas, multiple 2 133701 EXT2 608210
Osteopetrosis, autosomal dominant 1 607634 LRP5 603506
Osteoporosis-pseudoglioma syndrome 259770 LRP5 603506
Osteoses, multiple 1 133700 EXT1 608177
Otofaciocervical syndrome 166780 EYA1 601653
Otopalatodigital syndrome, type I 311300 FLNA 300017
Otospondylomegaepiphyseal dysplasia 215150 COL2A1 120140
Ovarian failure, Step 2, hypergonadotropic, due to ovarian dysgenesis 2 300510 BMP15 300247
Ovarian failure,Step 3, hypergonadotropic, due to ovarian dysgenesis 2 233300 FSHR 136435
Palmoplantar keratoderma with congenital alopecia 104100 GJA1 121014
Palmoplantar keratoderma, epidermolytic 607654 KRT1 139350
Palmoplantar keratoderma, Nagashima type 615598 SERPINB7 603357
Palmoplantar keratoderma, nonepidermolytic 600962 KRT1 139350
Pancreatic agenesis 260370 PDX1 600733
Pancreatic cancer 2 613347 BRCA2 600185
Pancreatic cancer, susceptibility to, 3 613348 PALB2 610355
Pancreatic cancer, susceptibility to, 4 614320 BRCA1 113705
Pancreatic cancer/melanoma syndrome 606719 CDKN2A 600160
Pancreatitis 167800 CFtr 602421
Pancreatitis 167800 CtrL 118888
Pancreatitis 167800 CPA1 114850
Pancreatitis 167800 PRSS1 276000
Pancreatitis 167800 SPINK1 167790
Pancreatitis 167800 CtrC 601405
Panic disorder, susceptibility to 167870 COMT 116790
Paraganglioma and gastric stromal sarcoma 606864 SDHB 185470
Paraganglioma and gastric stromal sarcoma 606864 SDHC 602413
Paragangliomas 2 601650 SDHAF2 613019
Paragangliomas 3 605373 SDHC 602413
Paragangliomas 4 115310 SDHB 185470
Paramyotonia congenita 168300 SCN4A 603967
Parastremmatic dwarfism 168400 trPV4 605427
Parathyroid adenoma 608266 CDC73 607393
Parkinson disease 1, 4 605543 SNCA 163890
Parkinson disease 14 612953 PLA2G6 603604
Parkinson disease 14, autosomal recessive 612953 PLA2G6 603604
Parkinson disease 2 600116 PARK2 602544
Parkinson disease 8 607060 LRRK2 609007
Paroxysmal extreme pain disorder 167400 SCN9A 603415
Paroxysmal nonkinesigenic dyskinesia 118800 MR1 609023
Partington syndrome 309510 ARX 300382
Peeling skin syndrome 2 609796 TGM5 603805
Pelizaeus Merzbacher disease 312080 PLP1 300401
Pendred syndrome 274600 SLC26A4 605646
Periodic Fever, familial, autosomal-dominant 142680 TNFRSF1A 191190
Peroxisome biogenesis disorder 1A (Zellweger) 214100 PEX1 602136
Peroxisome biogenesis disorder 1B 601539 PEX1 602136
Peroxisome biogenesis disorder 9B 614879 PEX7 601757
Perrault syndrome 5 616138 C10ORF2 606075
Perry Syndome 168605 DCTN1 601143
Persistent Mullerian duct syndrome, type I 261550 AMH 600957
Persistent Mullerian duct syndrome, type II 261550 AMHR2 600956
Peters anomaly 604229 PAX6 607108
Peters anomaly 604229 CYP1B1 601771
Peters anomaly 604229 PITX2 601542
Peters anomaly 604229 FOXC1 601090
Peters-plus syndrome 261540 B3GALTL 610308
Peutz-Jeghers syndrome 175200 STK11 602216
Pfeiffer syndrome 101600 FGFR1 136350
Pfeiffer syndrome 101600 FGFR2 176943
Phenylketonuria, classic 261600 PAH 612349
Pheochromocytoma 171300 RET 164761
Pheochromocytoma 171300 SDHA 600857
Pheochromocytoma 171300 SDHB 185470
Pheochromocytoma 171300 SDHD 602690
Pheochromocytoma, modifier of 171300 GDNF 600837
Pheochromocytoma, suceptibility to 171300 TMEM127 613403
Pheochromocytoma, suceptibility to 171300 MAX 154950
Pick disease 172700 PSEN1 104311
Piebaldism 172800 KIT
 164920
Piebaldism 172800 SNAI2 602150
Pitt-Hopkins syndrome 610954 TCF4 602272
Pitt-Hopkins-like syndrome 2 614325 NRXN1 600565
Pituitary hormone deficiency, combined, 1 613038 POU1F1 173110
Pituitary hormone deficiency, combined, 4 262700 LHX4 602146
Pituitary hormone deficiency, combined, 5 182230 HESX1 601802
Plasminogen activator inhibitor-1 deficiency 173360 SERPINE1 173360
Platyspondylic skeletal dysplasia, Torrance type 151210 COL2A1 120140
Polyarteritis nodosa, childhood-onset 615688 CECR1 607575
Polyglucosan body disease, adult form 263570 GBE1 607839
Polymicrogyria, bilateral frontoparietal 606854 GPR54 604110
Polymicrogyria, bilateral frontoparietal 606854 ADGRG1 604110
Polymicrogyria, bilateral occipital 612691 FIG4 609390
Polymicrogyria, bilateral perisylvian 615752 ADGRG1 604110
Pontocerebellar hypoplasia 4 225753 TSEN54 608755
Pontocerebellar hypoplasia 5 610204 TSEN54 608755
Pontocerebellar hypoplasia type 2A 277470 TSEN54 608755
Pontocerebellar hypoplasia, type 1A 607596 VRK1 602168
Pontocerebellar hypoplasia, type 1B 614678 EXOSC3 606489
Porokeratosis 3, disseminated superficial actinic 175900 MVK 251170
Porphyria, acute hepatic 612740 ALAD 125270
Porphyria, acute intermittent 176000 HMBS 609806
Porphyria, congenital erythropoietic 263700 UROS 606938
Pregnancy loss, recurrent, susceptibility to 614389 F5 612309
Pregnancy loss, recurrent, susceptibility to 614389 F2 176930
Pregnancy loss, recurrent, susceptibility to 614389 MTHFR 607093
Premature ovarian failure 1, Step 1 311360 FMR1 309550
Premature ovarian failure 11 616946 ERCC6 609413
Premature ovarian failure 3 608996 FOXL2 605597
Premature ovarian failure 7 612964 NR5A1 184757
Primary lateral sclerosis, juvenile 606353 ALS2 606352
Prion disease with protracted course 606688 PRNP 176640
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 609286 C10ORF2 606075
Progressive external ophthalmoplegia, autosomal recessive 1 258450 POLG 174763
Progressive pseudorheumatoid arthropathy of childhood 208230 WISP3 603400
Propionicacidemia 606054 PCCB 232050
Propionicacidemia 606054 PCCA 232000
Prostate cancer 176807 BRCA2 600185
Protoporphyria variegata 176200 PPOX 600923
Protoporphyria, erythropoietic, X-linked 300752 ALAS2 301300
Proud syndrome 300004 ARX 300382
Pseudoachondroplasia 177170 COMP 600310
Pseudohypoaldosteronism IIB 614491 WNK4 601844
Pseudohypoaldosteronism IID 614495 KLHL3 614495
Pseudohypoaldosteronism IIE 614496 CUL3 603136
Pseudohypoaldosteronism Type 1, autosomal dominant 177735 NR3C2 600983
Pseudohypoaldosteronism, Type 1, autosomal recessive 264350 SCNN1A 600228
Pseudohypoaldosteronism, Type 1, autosomal recessive 264350 SCNN1B 600760
Pseudohypoaldosteronism, Type 1, autosomal recessive 264350 SCNN1G 600761
Pseudohypoaldosteronism, type 2C 614492 WNK1 605232
Pseudohypoparathyroidism Ia 103580 GNAS 139320
Pseudohypoparathyroidism Ib 603233 GNAS 139320
Pseudohypoparathyroidism Ic 612462 GNAS 139320
Pseudopseudohypoparathyroidism 612463 GNAS 139320
Pseudoxanthoma elasticum 264800 ABCC6 603234
Pulmonal hypertension 178600 BMPR2 600799
Pyridoxamine-5'-Phospahte Oxidase Deficiency 610090 PNPO 603287
Pyruvate dehydrogenase E1-alpha deficiency 312170 PDHA1 300502
Rapp-Hodgkin syndrome 129400 TP63 603273
Refsum disease 266500 PHYH 602026
Renal agenesis 191830 RET 164761
Renal cysts and diabetes syndrome 137920 HNF1B 189907
Renal glucosuria 233100 SLC5A2 182381
Renal tubular acidosis, distal, AD 179800 SLC4A1 109270
Renal tubular acidosis, distal, AR 611590 SLC4A1 109270
Restrictive dermopathy, lethal 275210 LMNA 150330
Retinitis pigmentosa 1 180100 RP1 603937
Retinitis pigmentosa 13 600059 PRPF8 607300
Retinitis pigmentosa 18 601414 HPRP3 607301
Retinitis pigmentosa 20 613794 RPE65 204100
Retinitis pigmentosa 23 300424 OFD1 300170
Retinitis pigmentosa 3 300029 RPGR 312610
Retinitis pigmentosa 37 611131 NR2E3 604485
Retinitis pigmentosa 4, autosomal dominant or recessive 613731 RHO 180380
Retinitis pigmentosa 68 615725 SLC7A14 615720
Retinitis pigmentosa 7 600132 PRPH2 179605
Retinitis pigmentosa 74 616562 BBS2 606151
Retinitis pigmentosa 87 with choroidal involvement 618697 RPE65 204100
Retinitis pigmentosa-50 613194 BEST1 607854
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness 300455 RPGR 312610
Retinitis punctata albescens 136880 RHO 180380
Retinitis punctata albescens 136880 PRPH2 179605
Retinol dystrophy, iris coloboma, and comedogenic acne syndrome 615147 RBP4 180250
Retinoschisis1, X-linked, juvenile 312700 RS1 300839
Rett syndrome 312750 MECP2 300005
Rett syndrome, atypical 613454 FOXG1 164874
Rhabdoid tumor predisposition syndrome 2 613325 SMARCA4 603254
Rhizomelic chondrodysplasia punctata, type 2 222765 GNPAT 602744
Rickets, vitamin D-resistant IIA 277440 VDR 601769
Rippling muscle disease 606072 CAV3 601253
Robinow syndrome 268310 ROR2 602337
Roussy-Levy syndrome 180800 PMP22 601097
Roussy-Levy syndrome 180800 MPZ 159440
Rubinstein-Taybi syndrome 180849 CREBBP 600140
Sacral agenesis with vertebral anomalies 615709 TBXT 601397
Saethre-Chotzen syndrome 101400 FGFR2 176943
Sandhoff disease, infantile, juvenile, and adult forms 268800 HEXB 606873
Scaphocephaly, maxillary retrusion, and mental retardation 609579 FGFR2 176943
Scapuloperoneal spinal muscular atrophy 181405 trPV4 605427
Sebastian syndrome 605249 MYH9 160775
Seckel syndrome 4 613676 CENPJ 609279
SED congenita 183900 COL2A1 120140
Segawa syndrome, recessive 605407 TH 191290
Seizures, benign familial infantile 2 605751 PRRT2 614386
Seizures, benign familial infantile 3 607745 SCN2A 182390
Seizures, benign neonatal, type 2 121201 KCNQ3 602232
Seizures, scoliosis, and macrocephaly syndrome 616682 EXT2 608210
Septooptic Dysplasia 182230 HESX1 601802
Short QT syndrome 2 609621 KCNQ1 607542
Short QT syndrome 3 609622 KCNJ2 600681
Short QT syndrome-1 609620 KCNH2 152427
Short stature, idiopathic familial 300582 SHOX/SHOY 312865
SHORT syndrome 269880 PIK3R1 171833
Schaaf-Yang syndrome 615547 MAGEL2 605283
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic 163200 HRAS 190020
Schizencephaly 269160 SHH 600725
Schizencephaly 269160 SIX3 603714
Schizencephaly 269160 EMX2 600035
Schizophrenia, susceptibility to 181500 COMT 116790
Schopf-Schulz-Passarge syndrome 224750 WNT10A 606268
Schwannomatosis 162091 NF2 607379
Schwannomatosis 1 162091 SMARCB1 601607
Schwannomatosis 2 615670 LZtr1 600574
Schwannomatosis-1, susceptibility to 162091 SMARCB1 601607
Sick sinus syndrome 1 608567 SCN5A 600163
Sickle cell anemia 603903 HBB 141900
Silver spastic paraplegia syndrome 270685 BSCL2 606158
Silver-Russell Syndrome 180860 chrom. 7 -
Simpson-Golabi-Behmel syndrome 312870 GPC3 300037
Simpson-Golabi-Behmel syndrome, type 2 300209 OFD1 300170
SMED Strudwick type 184250 COL2A1 120140
Smith-Lemli-Opitz syndrome 270400 DHCR7 602858
Smith-Magenis syndrome 182290 17p11.2; RAI1 606586
Sneddon syndrome 182410 CECR1 607575
Sotos syndrome 117550 NSD1 606681
Spastic paralysis, infantile onset ascending 607225 ALS2 606352
Spastic paraplegia 11, autosomal recessive 604360 SPG11 610844
Spastic Paraplegia 2 312920 PLP1 300401
Spastic Paraplegia 3A 182600 SPG3A 606439
Spastic Paraplegia 4 182601 SPG4 604277
Spastic paraplegia 43, autosomal recessive 615043 C19orf12 614297
Spastic paraplegia 51, autosomal recessive 613744 AP4E1 607244
Spastic paraplegia 57, autosomal recessive 615658 TFG 602498
Spastic paraplegia 7, autosomal recessive 607259 SPG7 602783
Spermatogenic failure 8 612965 NR5A1 184757
Spherocytosis
 612653 SLC4A1 109270
Spherocytosis, type 1 182900 ANK1 612641
Spherocytosis, type 2 616649 SPTB 182870
Spherocytosis, type 3 270970 SPTA1 182860
Spherocytosis, type 5 612690 EPB42 177070
Spina bifida 182940 VANGL2 600533
Spina muscular atrophy, late-onset, Finkel type 605704 VAPB 605704
Spinal and bulbar muscular atrophy 313200 AR 313700
Spinal muscular atrophy, distal, autosomal recessive, 4 611067 PLEKHG5 611101
Spinal muscular atrophy, distal, autosomal recessive, 5 614881 DNAJB2 604139
Spinal muscular atrophy, distal, congenital nonprogressive 313200 trPV4 605427
Spinal Muscular Atrophy, distal, X-linked 3 300489 ATP7A 300011
Spinal muscular atrophy, Jokela type 615048 CHCHD10 615903
Spinocerebellar Ataxia 01 164400 ATXN1 601556
Spinocerebellar Ataxia 02 183090 ATXN2 601517
Spinocerebellar Ataxia 03 109150 ATXN3 607047
Spinocerebellar Ataxia 06 183086 CACNA1A 601011
Spinocerebellar Ataxia 07 164500 ATXN7 607640
Spinocerebellar Ataxia 08 608768 ATXN8OS 603680
Spinocerebellar Ataxia 10 603516 ATXN10 611150
Spinocerebellar Ataxia 12 604326 PPP2R2B 604325
Spinocerebellar Ataxia 13 605259 KCNC3 176264
Spinocerebellar Ataxia 14 605361 PRKCG 176980
Spinocerebellar Ataxia 15 606658 ITPR1 147265
Spinocerebellar Ataxia 17 607136 TBP 600075
Spinocerebellar ataxia 19 607346 KCND3 605411
Spinocerebellar Ataxia, autosomal recessive 1 606002 SETX 608465
Spinocerebellar ataxia, autosomal recessive 10 613728 ANO10 613726
Spinocerebellar ataxia, autosomal recessive 13 614831 GRM1 604473
Spinocerebellar ataxia, autosomal recessive 14 615386 SPTBN2 604985
Spinocerebellar ataxia, autosomal recessive 16 615768 STUB1 607207
Spinocerebellar ataxia, autosomal recessive 18 616204 GRID2 602368
Spinocerebellar ataxia, autosomal recessive 20 616354 SNX14 616105
Spinocerebellar ataxia, autosomal recessive 7 609270 TPP1 607998
Spinocrebellar ataxia, autosomal recessive 12 614322 WWOX 605131
Spondylocarpotarsal synostosis syndrome 272460 FLNB 603381
Spondyloepiphyseal dyspalsia, Maroteaux type 184095 trPV4 605427
Spondyloepiphyseal dysplasia with congenital joint dislocation 143095 CHST3 603799
Spondylometaphyseal dysplasia, Kozlowski type 184252 trPV4 605427
Spondyloperipheral dysplasia 271700 COL2A1 120140
Stapes ankylosis with broad thumb and toes 184460 NOG 602991
Stickler syndrome, type I 108300 COL2A1 120140
Stickler syndrome, type I, nonsyndromic ocular 609508 COL2A1 120140
Stiff skin syndrome 184900 FBN1 134797
Stomatin-deficient cryohydrocytosis with neurologic defects 608885 SLC2A1 138140
Stroke, ischemic, susceptibility to 601367 F2 176930
Stroke, ischemic, susceptibility to 601367 F5 612309
Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome 601559 LIFR 151443
Subcortical laminal heteropia, X-linked 300067 DCX 300121
Succinic semialdehyde dehydrogenase deficiency 271980 ALDH5A1 610045
Succinyl CoA:3-oxoacid CoA transferase deficiency 245050 OXCT1 601424
Sudden infant death syndrome 272120 SCN5A 600163
Symphalangism, proximal 185800 NOG 602991
Syndactyly, type III 186100 GJA1 121014
Syndactyly, type V 186300 HOXD13 142989
Synpolydactyly, type II 186000 HOXD13 142989
Tarsal-carpal coalition syndrome 186570 NOG 602991
Tay-Sachs syndrome 272800 HEXA 606869
Telangiectasia, hereditary hemorrhagic, type 1 187300 ENG 131195
Telangiectasia, hereditary hemorrhagic, type 2 600376 ACVRL1 601284
Terminal osseous dysplasia 300244 FLNA 300017
Tetralogy of Fallot 187500 JAG1 601920
Thanatophoric dysplasia, type I 187600 FGFR3 134934
Thanatophoric dysplasia, type II 187601 FGFR3 134934
Thrombocythemia 3 614521 JAK2 147796
Thrombocytopenia 1 313900 WAS 300392
Thrombocytopenia with beta-thalassemia, X-linked 314050 GATA1 305371
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 300367 GATA1 305371
Thromboembolism, susceptibility to 188050 MTHFR 607093
Thrombophilia due to thrombin defect 188050 F2 176930
Thrombophilia, susceptibility to, due to factor V Leiden 188055 F5 612309
Thyroid Dyshomogenesis 274400 SLC5A5 601843
Thyroid dyshormonogenesis 2A 606765 TPO 274500
Thyroid hormone resistance 188570 THRB 190160
Thyroid hormone resistance, autosomal recessive 274300 THRB 190160
Thyroid hormone resistance, selective pituitary 145650 THRB 190160
Thyrotoxic periodic paralysis 2 613239 KCNJ18 613236
Tooth agenesis, selective, 1 106600 MSX1 142983
Tooth agenesis, selective, 3 604625 PAX9 167416
Tooth agenesis, selective, 4 150400 WNT10A 606268
Tooth agenesis, selective, X-linked 1 313500 EDA 300451
Townes-Brokes syndrome 107480 SALL1 602218
treacher Collins-Franceschatti syndrome 154500 TCOF1 606847
tremor, hereditary essential, 4 614782 FUS 137070
trigonocephaly 1 190400 FGFR1 136350
trigonocephaly 2 614485 FREM1 608944
trichorhinophalangeal syndrome, type I 190350 trPS1 604386
trichorhinophalangeal syndrome, type III 190651 trPS1 604386
trichotillomania 613229 SLItrK1 609678
trimethylaminuria 602079 FMO3 136132
tropical calcific pancreatitis 608189 SPINK1 167790
troyer syndrome 275900 SPG20 607111
Tuberous sclerosis 1 191100 TSC1 605284
Tuberous sclerosis 2 613254 TSC2 191092
Tumoral calcinosis, hyperphosphatemic, familial 211900 FGF23 605380
Tyrosinemia, type I 276700 FAH 613871
Ulna and fibula, absence of, with sever limb deficiency 276820 WNT7A 601570
Ulnar-Mammary Syndrom 181450 TBX3 601621
Usher Syndrome 1B 276900 MYO7A 276903
UV-sensitive syndrome 1 133540 ERCC6 609413
UV-sensitive syndrome 2 614621 ERCC8 609412
Van Buchem disease, type 2 607636 LRP5 603506
Van Den Ende-Gupta syndrome 600920 SCARF2 613619
Vasculopathy, retinal, with cerebral leukodystrophy 192315 trEX1 606609
VATER association with macrocephaly and ventriculomegaly 276950 PTEN 601728
Ventricular fibrillation, familial, 1 603829 SCN5A 600163
Vitamin D-dependent rickets, type I 264700 CYP27B1 609506
Vitreoretinochoroidopathy 193220 BEST1 607854
VLCAD definiciency 201475 ACADVL 609575
Von Hippel-Lindau syndrome 193300 VHL 608537
Von Willebrand disease, platelet-type 177820 GP1BA 606672
Waardenburg syndrome, 4C 613266 SOX10 602229
Waardenburg syndrome, type 1 193500 PAX3 606597
Waardenburg Syndrome, type 2A 193510 MITF 156845
Waardenburg syndrome, type 2D 608890 SNAI2 602150
Waardenburg Syndrome, type 2E 611584 SOX10 602229
Waardenburg syndrome, type 3 148820 PAX3 606597
Waardenburg syndrome, type 4A 277580 EDNRB 131244
Waardenburg syndrome, type 4B 613265 EDN3 131242
Waardenburg syndrome/albinism 103470 TYR 606933
Waardenburg syndrome/ocular albinism, digenic 103470 MITF 156845
Watson syndrome 193520 NF1 613113
Weaver syndrome 277590 EZH2 601573
Weill-Marchesani syndrome 1 277600 ADAMTS10 608990
Weill-Marchesani syndrome 2, dominant 608328 FBN1 134797
West syndrome 308350 ARX 300382
Wiedemann-Steiner sydrome 605130 KMT2A 159555
Wilms tumor 194070 WT1 607102
Wilms tumor 194070 BRCA2 600185
Wilson disease 277900 ATP7B 606882
Wilson-Turner syndrome 309585 HDAC8 300269
Wiskott-Aldrich syndrome 301000 WAS 300392
Wolff-Parkinson-White syndrome 194200 PRKAG2 602743
Wolman disease 278000 LIPA 613497
Yunis-Varon syndrome 216340 FIG4 609390