Human Disease Genes with Mouse Orthologs and no hits in the FANTOM2 set

Human
LocusID
Mouse
ortholog
LocusID
Human
Gene Symbol
Phenotype OMIM GI Human
Chromosomal
Position
Human Gene Name (Disease Name)
15811564 ADSL Adenylosuccinase deficiency 103050 7 22q13.2 adenylosuccinate lyase
18911611 AGXT Hyperoxaluria, primary, type 1 604285 7 2q36-q37 alanine-glyoxylate aminotransferase (oxalosis I; hyperoxaluria I; glycolicaciduria; serine-pyruvate aminotransferase)
19011614 NR0B1 Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism 300200 3 Xp21.3-p21.2 nuclear receptor subfamily 0, group B, member 1
26511704 AMELX Amelogenesis imperfecta 300391 3 Xp22.31-p22.1 amelogenin (X chromosome, amelogenesis imperfecta 1)
26811705 AMH Persistent Mullerian duct syndrome, type I 600957 3 19p13.3 anti-Mullerian hormone
269110542 AMHR2 Persistent Mullerian duct syndrome, type II 600956 5 12q13 anti-Mullerian hormone receptor, type II
32611634 AIRE Autoimmune polyglandular disease, type I 240300 11 21q22.3 autoimmune regulator (automimmune polyendocrinopathy candidiasis ectodermal dystrophy)
33611807 APOA2 Apolipoprotein A-II deficiency 107670 7 1q21-q23 apolipoprotein A-II
34411813 APOC2 Hyperlipoproteinemia, type Ib 207750 6 19q13.2 apolipoprotein C-II
34511814 APOC3 Hypertriglyceridemia 107720 10 11q23.1-q23.2 apolipoprotein C-III
38311846 ARG1 Argininemia 207800 5 6q23 arginase, liver
41220905 STS Ichthyosis, X-linked 308100 2 Xp22.32 steroid sulfatase (microsomal), arylsulfatase C, isozyme S
44511898 ASS Citrullinemia 603470 6 9q34.1 argininosuccinate synthetase
47211920 ATM T-cell prolymphocytic leukemia, sporadic 208900 11 11q22-q23 ataxia telangiectasia mutated (includes complementation groups A, C and D)
56712010 B2M Hemodialysis-related amyloidosis 109700 4 15q21-q22.2 beta-2-microglobulin
60212051 BCL3 Leukemia/lymphoma, B-cell, 3 109560 4 19q13.1-q13.2 B-cell CLL/lymphoma 3
64112144 BLM Bloom syndrome 604610 2 15q26.1 Bloom syndrome
66826927 FOXL2 Blepharophimosis, epicanthus inversus, and ptosis, type 2 605597 2 3q23 forkhead box L2
67512190 BRCA2 Pancreatic cancer 600185 5 13q12.3 breast cancer 2, early onset
71012258 SERPING1 Angioedema, hereditary 606860 11 11q12-q13.1 serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)
71412262 C1QG C1q deficiency, type C 120575 2 1p36.11 complement component 1, q subcomponent, gamma polypeptide
71712263 C2 C2 deficiency 217000 8 6p21.3 complement component 2
730109828 C7 C7 deficiency 217070 2 5p13 complement component 7
73512279 C9 C9 deficiency 120940 5 5p14-p12 complement component 9
79612310 CALCA Osteoporosis 114130 9 11p15.2-p15.1 calcitonin/calcitonin-related polypeptide, alpha
91612501 CD3E Immunodeficiency, T-cell receptor/CD3 complex 186830 3 11q23 CD3E antigen, epsilon polypeptide (TiT3 complex)
91712502 CD3G Immunodeficiency due to defect in CD3-gamma 186740 3 11q23 CD3G antigen, gamma polypeptide (TiT3 complex)
95921947 TNFSF5 Immunodeficiency, X-linked, with hyper-IgM 300386 6 Xq26 tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)
96612509 CD59 CD59 deficiency 107271 7 11p13 CD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and G344)
102812577 CDKN1C Beckwith-Wiedemann syndrome 600856 5 11p15.5 cyclin-dependent kinase inhibitor 1C (p57, Kip2)
102912578 CDKN2A Pancreatic cancer/melanoma syndrome 600160 16 9p21 cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)
126112790 CNGA3 Achromatopsia-2 600053 3 2q11.2 cyclic nucleotide gated channel alpha 3
129812840 COL9A2 Intervertebral disc disease, susceptibility to 600204 4 1p33-p32 collagen, type IX, alpha 2
130012813 COL10A1 Spondylometaphyseal dysplasia, Japanese type 120110 9 6q21-q22 collagen, type X, alpha 1(Schmid metaphyseal chondrodysplasia)
137112892 CPO Harderoporphyrinuria 121300 5 3q12 coproporphyrinogen oxidase (coproporphyria, harderoporphyria)
139212918 CRH ACTH deficiency 122560 3 8q13 corticotropin releasing hormone
140912954 CRYAA Cataract, zonular central nuclear, autosomal dominant 123580 8 21q22.3 crystallin, alpha A
141012955 CRYAB Myopathy, cardioskeletal, desmin-related, with cataract 123590 6 11q22.3-q23.1 crystallin, alpha B
143812982 CSF2RA Leukemia, acute myeloid, M2 type 425000 11 Xp22.32 or Yp11.3 colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)
143912983 CSF2RB Pulmonary alveolar proteinosis 138981 3 22q13.1 colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)
147113010 CST3 Cerebral amyloid angiopathy 604312 6 20p11.21 cystatin C (amyloid angiopathy and cerebral hemorrhage)
147613014 CSTB Epilepsy, progressive myoclonic 1 601145 6 21q22.3 cystatin B (stefin B)
148218091 NKX2E Atrial septal defect with atrioventricular conduction defects 600584 4 5q34 NK2 transcription factor homolog E (Drosophila)
*156413100 CYP2D7P1 0 22q13 cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 1
1584110115 CYP11B1 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency 202010 9 8q21 cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1
158513072 CYP11B2 Hypoaldosteronism, congenital, due to CMO II deficiency 124080 6 8q21-q22 cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2
158813075 CYP19 Virilization, maternal and fetal, from placental aromatase deficiency 107910 10 15q21.1 cytochrome P450, subfamily XIX (aromatization of androgens)
158913080 CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 201910 17 6p21.3 cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2
160313135 DAD1 Temperature-sensitive apoptosis 600243 6 14q11-q12 defender against cell death 1
163611421 ACE Myocardial infarction, susceptibility to 106180 5 17q23 angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
164213194 DDB1 Xeroderma pigmentosum, group E, subtype 2 600045 6 11q12-q13 damage-specific DNA binding protein 1, 127kDa
1643107986 DDB2 Xeroderma pigmentosum, group E, DDB-negative subtype 600811 3 11p12-p11 damage-specific DNA binding protein 2, 48kDa
164913198 DDIT3 Myxoid liposarcoma 126337 3 12q13.1-q13.2 DNA-damage-inducible transcript 3
167830058 TIMM8A Deafness, X-linked 1, progressive 300356 4 Xq22.1 translocase of inner mitochondrial membrane 8 homolog A (yeast)
*171874754 DHCR24 Desmosterolosis 606418 0 1p33-p31.1 24-dehydrocholesterol reductase
1736108025 DKC1 Hoyeraal-Hreidarsson syndrome 300126 8 Xq28 dyskeratosis congenita 1, dyskerin
174713393 DLX3 Trichodontoosseous syndrome 600525 2 17q21 distal-less homeo box 3
181313489 DRD2 Dystonia, myoclonic 126450 15 11q23 dopamine receptor D2
182213498 DRPLA Dentatorubro-pallidoluysian atrophy 125370 6 12p13.31 dentatorubral-pallidoluysian atrophy (atrophin-1)
183413517 DSPP Dentinogenesis imperfecta-1 with deafness 125485 3 4q21.3 dentin sialophosphoprotein
183915200 DTR Diphtheria, susceptibility to 126150 3 5q23 diphtheria toxin receptor (heparin-binding epidermal growth factor-like growth factor)
189613607 ED1 Ectodermal dysplasia-1, anhidrotic 305100 6 Xq12-q13.1 ectodermal dysplasia 1, anhidrotic
200613717 ELN Cutis laxa 130160 8 7q11.23 elastin (supravalvular aortic stenosis, Williams-Beuren syndrome)
201013726 EMD Emery-Dreifuss muscular dystrophy 300384 6 Xq28 emerin (Emery-Dreifuss muscular dystrophy)
201813797 EMX2 Schizencephaly 600035 3 10q26.1 empty spiracles homolog 2 (Drosophila)
202213805 ENG Hereditary hemorrhagic telangiectasia-1 131195 6 9q33-q34.1 endoglin (Osler-Rendu-Weber syndrome 1)
212214013 EVI1 3q21q26 syndrome 165215 1 3q24-q28 ecotropic viral integration site 1
213014030 EWSR1 Neuroepithelioma 133450 7 22q12.2 Ewing sarcoma breakpoint region 1
214714061 F2 Hyperprothrombinemia 176930 5 11p11-q12 coagulation factor II (thrombin)
215914058 F10 Factor X deficiency 227600 8 13q34 coagulation factor X
218414085 FAH Tyrosinemia, type I 276700 4 15q23-q25 fumarylacetoacetate hydrolase (fumarylacetoacetase)
218960534 FANCG Fanconi anemia, complementation group G 602956 5 9p13 Fanconi anemia, complementation group G
224314161 FGA Afibrinogenemia 134820 10 4q28 fibrinogen, A alpha polypeptide
239514297 FRDA Friedreich ataxia with retained reflexes 606829 3 9q13-q21.1 Friedreich ataxia
253213349 FY Vivax malaria, susceptibility to 110700 5 1q21-q22 Duffy blood group
264314528 GCH1 Phenylketonuria, atypical, due to GCH1 deficiency 600225 9 14q22.1-q22.2 GTP cyclohydrolase 1 (dopa-responsive dystonia)
264514635 GCK MODY, type II 138079 10 7p15.3-p15.1 glucokinase (hexokinase 4, maturity onset diabetes of the young 2)
266814573 GDNF Hirschsprung disease 600837 2 5p13.1-p12 glial cell derived neurotrophic factor
269014600 GHR Laron dwarfism 600946 3 5p13-p12 growth hormone receptor
272914629 GCLC Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency 606857 3 6p12 glutamate-cysteine ligase, catalytic subunit
276014667 GM2A GM2-gangliosidosis, AB variant 272750 10 5q31.3-q33.1 GM2 ganglioside activator protein
279814715 GNRHR Fertile eunuch syndrome 138850 8 4q21.2 gonadotropin-releasing hormone receptor
281114723 GP1BA Bernard-Soulier syndrome 231200 4 17pter-p12 glycoprotein Ib (platelet), alpha polypeptide
281214724 GP1BB Giant platelet disorder, isolated 138720 5 22q11.21 glycoprotein Ib (platelet), beta polypeptide
281554368 GP9 Bernard-Soulier syndrome, type C 173515 4 3q21 glycoprotein IX (platelet)
297814913 GUCA1A Cone dystrophy-3 600364 3 6p21.1 guanylate cyclase activator 1A (retina)
305315160 SERPIND1 Thrombophilia due to heparin cofactor II deficiency 142360 5 22q11.21 serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1
309815275 HK1 Hemolytic anemia due to hexokinase deficiency 142600 14 10q22 hexokinase 1
311015285 HLXB9 Currarino syndrome 142994 2 7q36 homeo box HB9
317215378 HNF4A MODY, type I 600281 4 20q12-q13.1 hepatocyte nuclear factor 4, alpha
319521908 TLX1 Leukemia, T-cell acute lymphocytic 186770 5 10q24 T-cell leukemia, homeobox 1
324015439 HP Hypohaptoglobinemia 140100 7 16q22.1 haptoglobin
324215445 HPD Tyrosinemia, type III 276710 5 12q24-qter 4-hydroxyphenylpyruvate dioxygenase
329115484 HSD11B2 Apparent mineralocorticoid excess, hypertension due to 218030 4 16q22 hydroxysteroid (11-beta) dehydrogenase 2
342612630 IF C3b inactivator deficiency 217030 3 4q25 I factor (complement)
343915962 IFNA1 Interferon, alpha, deficiency 147660 6 9p22 interferon, alpha 1
345815978 IFNG Interferon, immune, deficiency 147570 4 12q14 interferon, gamma
355816183 IL2 Severe combined immunodeficiency due to IL2 deficiency 147680 7 4q26-q27 interleukin 2
356116186 IL2RG Combined immunodeficiency, X-linked, moderate 308380 5 Xq13.1 interleukin 2 receptor, gamma (severe combined immunodeficiency)
359416161 IL12RB1 Mycobacterial and salmonella infections, susceptibility to 601604 2 19p13.1 interleukin 12 receptor, beta 1
363016334 INS MODY, one form 176730 7 11p15.5 insulin
365916362 IRF1 Gastric cancer 147575 4 5q31.1 interferon regulatory factor 1
3732 KAI1 Prostate cancer, susceptibility to 600623 5 11p11.2 kangai 1 (suppression of tumorigenicity 6, prostate; CD82 antigen (R2 leukocyte antigen, antigen detected by monoclonal and antibody IA4))
391816782 LAMC2 Epidermolysis bullosa, generalized atrophic benign 150292 7 1q25-q31 laminin, gamma 2
397216866 LHB ?Male pseudohermaphroditism due to defective LH 152780 2 19q13.32 luteinizing hormone beta polypeptide
401416939 LOR Erythrokeratoderma, progressive symmetric 152445 4 1q21 loricrin
405617001 LTC4S Leukotriene C4 synthase deficiency 246530 5 5q35 leukotriene C4 synthase
419217242 MDK 162096 5 11p11.2 midkine (neurite growth-promoting factor 2)
419717251 MDS1 Myelodysplasia syndrome-1 600049 3 3q26 myelodysplasia syndrome 1
422117283 MEN1 Parathyroid adenoma, sporadic 131100 18 11q13 multiple endocrine neoplasia I
425617313 MGP Keutel syndrome 154870 6 12p13.1-p12.3 matrix Gla protein
428117318 MID1 Opitz G syndrome, type I 300000 13 Xp22 midline 1 (Opitz/BBB syndrome)
433756738 MOCS1 Molybdenum cofactor deficiency, type A 603707 3 6p21.3 molybdenum cofactor synthesis 1
459417850 MUT Methylmalonicaciduria, mutase deficiency type 251000 3 6p21 methylmalonyl Coenzyme A mutase
460117859 MXI1 Neurofibrosarcoma 600020 7 10q24-q25 MAX interacting protein 1
469317986 NDP Norrie disease 310600 4 Xp11.4 Norrie disease (pseudoglioma)
486753885 NPHP1 Nephronophthisis, juvenile 256100 4 2q13 nephronophthisis 1 (juvenile)
486854631 NPHS1 Nephrosis-1, congenital, Finnish type 602716 2 19q13.1 nephrosis 1, congenital, Finnish type (nephrin)
494218242 OAT Gyrate atrophy of choroid and retina with ornithinemia, B6 responsive or unresponsive 258870 8 10q26 ornithine aminotransferase (gyrate atrophy)
504818472 PAFAH1B1 Lissencephaly-1 601545 5 17p13.3 platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa
505318478 PAH Phenylketonuria 261600 6 12q22-q24.2 phenylalanine hydroxylase
507150873 PARK2 Parkinson disease, juvenile, type 2 602544 4 6q25.2-q27 Parkinson disease (autosomal recessive, juvenile) 2, parkin
515518591 PDGFB Dermatofibrosarcoma protuberans 190040 18 22q13.1 platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)
519918636 PFC Properdin deficiency, X-linked 300383 8 Xp11.3-p11.23 properdin P factor, complement
526416922 PHYH Refsum disease 602026 4 10pter-p11.2 phytanoyl-CoA hydroxylase (Refsum disease)
530818741 PITX2 Rieger syndrome 601542 3 4q25-q27 paired-like homeodomain transcription factor 2
530918742 PITX3 Anterior segment mesenchymal dysgenesis and cataract 602669 2 10q25 paired-like homeodomain transcription factor 3
532018780 PLA2G2A ?Colorectal cancer, resistance to 172411 4 1p35 phospholipase A2, group IIA (platelets, synovial fluid)
544918736 POU1F1 Pituitary hormone deficiency, combined 173110 6 3p11 POU domain, class 1, transcription factor 1 (Pit1, growth hormone factor 1)
562119122 PRNP Huntington disease-like 1 176640 7 20pter-p12 prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)
562519125 PRODH 606810 6 22q11.21 proline dehydrogenase (oxidase) 1
562619127 PROP1 Pituitary hormone deficiency, combined 601538 4 5q35.2 prophet of Pit1, paired-like homeodomain transcription factor
572719206 PTCH Holoprosencephaly-7 601309 3 9q22.3 patched homolog (Drosophila)
574119226 PTH Hypoparathyroidism, autosomal recessive 168450 3 11p15.3-p15.1 parathyroid hormone
578219248 PTPN12 Colon cancer 600079 6 7q11.23 protein tyrosine phosphatase, non-receptor type 12
582819302 PXMP3 Refsum disease, infantile form 170993 6 8q21.1 peroxisomal membrane protein 3, 35kDa (Zellweger syndrome)
5921110008 RASA1 Basal cell carcinoma 139150 4 5q13.3 RAS p21 protein activator (GTPase activating protein) 1
5994170767 RFXAP Bare lymphocyte syndrome, type II, complementation group D 601861 3 13q14 regulatory factor X-associated protein
*602319782 RMRP Metaphyseal dysplasia without hypotrichosis 157660 0 9p21-p12 RNA component of mitochondrial RNA processing endoribonuclease
609419881 ROM1 Retinitis pigmentosa, digenic 180721 4 11q13 retinal outer segment membrane protein 1
624720147 RS1 Retinoschisis 312700 2 Xp22.2-p22.1 retinoschisis (X-linked, juvenile) 1
632420266 SCN1B Generalized epilepsy with febrile seizures plus 600235 4 19q13.1 sodium channel, voltage-gated, type I, beta polypeptide
638720315 CXCL12 AIDS, resistance to 600835 5 10q11.1 chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)
640120339 SELE Atherosclerosis, susceptibility to 131210 5 1q22-q25 selectin E (endothelial adhesion molecule 1)
643920388 SFTPB Pulmonary alveolar proteinosis, congenital 178640 5 2p12-p11.2 surfactant, pulmonary-associated protein B
660620595 SMN1 Spinal muscular atrophy-3 600354 8 5q13 survival of motor neuron 1, telomeric
662220617 SNCA Parkinson disease, familial 163890 6 4q21 synuclein, alpha (non A4 component of amyloid precursor)
671694224 SRD5A2 Pseudovaginal perineoscrotal hypospadias 264600 2 2p23 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
688621349 TAL1 Leukemia-1, T-cell acute lymphocytic 187040 5 1p32 T-cell acute lymphocytic leukemia 1
688721350 TAL2 Leukemia-2, T-cell acute lymphoblastic 186855 3 9q32 T-cell acute lymphocytic leukemia 2
691521390 TBXA2R Bleeding disorder due to defective thromboxane A2 receptor 188070 6 19p13.3 thromboxane A2 receptor
694821452 TCN2 Transcobalamin II deficiency 275350 5 22q12.2 transcobalamin II; macrocytic anemia
705421823 TH Segawa syndrome, recessive 191290 4 11p15.5 tyrosine hydroxylase
708021869 TITF1 Goiter, familial, due to TTF-1 defect 600635 5 14q13 thyroid transcription factor 1
713921956 TNNT2 Cardiomyopathy, familial hypertrophic, 2 191045 9 1q32 troponin T2, cardiac
7178108101 TPT1 600763 3 13q12-q14 tumor protein, translationally-controlled 1
720022044 TRH Thyrotropin-releasing hormone deficiency 275120 2 3q13.3-q21 thyrotropin-releasing hormone
724922084 TSC2 Lymphangioleiomyomatosis, somatic 191092 8 16p13.3 tuberous sclerosis 2
725222094 TSHB Hypothyroidism, nongoitrous 188540 5 1p13 thyroid stimulating hormone, beta
729122160 TWIST Saethre-Chotzen syndrome with eyelid anomalies 601622 6 7p21.2 twist homolog (acrocephalosyndactyly 3; Saethre-Chotzen syndrome) (Drosophila)
730522177 TYROBP Polycystic lipomembranous osteodysplasia with sclerosing leukenencephalophathy 604142 4 19q13.1 TYRO protein tyrosine kinase binding protein
*737722262 UOX Urate oxidase deficiency 191540 0 1p22 urate oxidase
739022276 UROS Porphyria, congenital erythropoietic 606938 4 10q25.2-q26.3 uroporphyrinogen III synthase (congenital erythropoietic porphyria)
742822346 VHL von Hippel-Lindau syndrome 193300 2 3p26-p25 von Hippel-Lindau syndrome
745422376 WAS Thrombocytopenia, X-linked, intermittent 300392 6 Xp11.4-p11.21 Wiskott-Aldrich syndrome (eczema-thrombocytopenia)
746622393 WFS1 Hearing loss, low-frequency sensorineural 606201 3 4p16 Wolfram syndrome 1 (wolframin)
749022431 WT1 194070 11 11p13 Wilms tumor 1
*750322438 XIST 314670 0 Xq13.2 X (inactive)-specific transcript
*7809140475 Bartter syndrome, infantile, with sensorineural deafness 606412 0 1p32.1 barttin
795713853 EPM2A Epilepsy, myoclonic, Lafora type 254780 6 6q24 epilepsy, progressive myoclonus type 2, Lafora disease (laforin)
807464654 FGF23 Osteomalacia, tumor-induced 605380 4 12p13.3 fibroblast growth factor 23
809115364 HMGA2 Uterine leiomyoma 600698 6 12q15 high mobility group AT-hook 2
811521432 TCL1A Leukemia/lymphoma, T-cell 186960 4 14q32.1 T-cell leukemia/lymphoma 1A
829212844 COLQ Endplate acetylcholinesterase deficiency 603033 13 3p25 collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
848152045 OFD1 Oral-facial-digital syndrome 1 300170 3 Xp22.2-p22.3 oral-facial-digital syndrome 1
924118121 NOG Tarsal-carpal coalition syndrome 602991 2 17q22 noggin
1021665022 PRG4 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 604283 2 1q25-q31 proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)
*89781192232 HPS4 Hermansky-Pudlak syndrome 606682 0 22cen-q12.3 Hermansky-Pudlak syndrome 4
*117156117158 SCGB3A2 Asthma, susceptibility to 606531 0 5q32 secretoglobin, family 3A, member 2
11753113409 TMC1 Deafness, autosomal recessive 7 606706 2 9q21.12 transmembrane cochlear-expressed gene 1
17030211878 ARX Myoclonic epilepsy, X-linked, with mental retardation and spasticity 300382 1 Xp22.12 aristaless related homeobox
LocusIDs with asterisks(*) are entries that have no proteins.