| Syndrome |
Gene |
Chromosome |
Location |
Category |
| Aarskog-Scott syndrome | FGD1 | 23 | p11.21 | Cleft lip / cleft palate | |
| ABELSON HELPER INTEGRATION SITE 1 | AHI1 | 6 | q23.3 | Autism spectrum | |
| Abetalipoproteinemia | MTTP | 4 | q23 | Ataxia spectrum | |
| Abnormal presynaptic function disorder | SYN2 | 3 | p25 | Autism spectrum | |
| Acatalasemia | CAT | 11 | p13 | Hyperlipidemia | |
| Aceruloplasminemia | CP | 3 | q24-5 | Ataxia spectrum | |
| Achromatopsia | CNGA3 | 2 | q11.2 | Photophobia - sensitivity to light | |
| Achromatopsia | CNGB3 | 8 | q21.3 | Photophobia - sensitivity to light | |
| Achromatopsia | GNAT2 | 1 | p13.3 | Photophobia - sensitivity to light | |
| Achromatopsia | PDE6C | 10 | q23.33 | Photophobia - sensitivity to light | |
| Achromatopsia | PDE6H | 12 | p12.3 | Photophobia - sensitivity to light | |
| ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE | ACRDYS2 | 5 | q11.2-q12. | Autism spectrum | |
| Action myoclonus renal failure | SCARB2 | 4 | q21.1 | Panic phobia anxiety | |
| Action myoclonus–renal failure syndrome | SCARB2 | 4 | q21.1 | Epilepsy and seizures | |
| Acute lymphoblastic leukemia | ABL1 | 9 | q34.12 | Leukemia | |
| Acute lymphoblastic leukemia | BCR | 22 | q11.23 | Leukemia | |
| Acute lymphoblastic leukemia | PML | 15 | q24.1 | Leukemia | |
| Acute lymphoblastic leukemia | RARA | 17 | q21.2 | Leukemia | |
| Acute lymphoblastic leukemia | RUNX1T1 | 8 | q22 | Leukemia | |
| Acute myeloid leukemia | ETV6 | 12 | p13.2 | Leukemia | |
| Acute myeloid leukemia | NTRK3 | 15 | q25.3 | Leukemia | |
| Acute myeloid leukemia | RUNX1 | 21 | q22.12 | Leukemia | |
| Acute necrotizing encephalopathy type 1 | RANBP2 | 2 | q13 | Encephalitis | |
| ACYL-CoA DEHYDROGENASE VERY LONG-CHAIN DEFICIENCY OF | ACADVLD | 17 | p13.1 | Autism spectrum | |
| ADCY5-related dyskinesia | ADCY5 | 3 | q21.1 | Panic phobia anxiety | |
| ADENOSINE DEAMINASE | ADA | 20 | q13.12 | Autism spectrum | |
| ADENOSINE KINASE | ADK | 10 | q22.2 | Autism spectrum | |
| ADENYLOSUCCINASE DEFICIENCY | ADSLD | 22 | q13.1 | Autism spectrum | |
| ADRENOLEUKODYSTROPHY | ALD | 23 | q28 | Autism spectrum | |
| Advanced sleep phase syndrome familial 3 (FASPS3) | PER3 | 1 | p36.23 | Sleep disorders | |
| Aicardi-Goutieres Syndrome | ADAR | 1 | q21.3 | Autism spectrum | |
| Aicardi-Goutieres Syndrome | IFIH1 | 2 | q24.2 | Autism spectrum | |
| Aicardi-Goutieres Syndrome | RNASEH2A | 19 | p13.2 | Autism spectrum | |
| Aicardi-Goutieres Syndrome | RNASEH2B | 13 | q14.3 | Autism spectrum | |
| Aicardi-Goutieres Syndrome | RNASEH2C | 11 | q13.1 | Autism spectrum | |
| Aicardi-Goutieres Syndrome | SAMHD1 | 20 | q11.23 | Autism spectrum | |
| Aicardi-Goutieres Syndrome | TREX1 | 3 | p21.31 | Autism spectrum | |
| Alacrima Achalasia and Mental Retardation Syndrome | TCF20 | 22 | q13.2 | Autism spectrum | |
| Alazami-Yuan syndrome | TAF6 | 7 | q22.1 | Autism spectrum | |
| Albright hereditary osteodystrophy-like syndrome | several | 2 | q37 | Autism spectrum | |
| ALDEHYDE DEHYDROGENASE 1 FAMILY MEMBER A3 | ALDH1A3 | 15 | q26.3 | Autism spectrum | |
| Alexander disease | GFAP | 4 | q21.31 | Ataxia spectrum | |
| ALG1-congenital disorder of glycosylation | ALG1 | 16 | p13.3 | Ataxia spectrum | |
| ALG6-congenital disorder of glycosylation | ALG6 | 1 | p31.3 | Ataxia spectrum | |
| Allan-Herndon-Dudley syndrome | SLC16A2 | 23 | q13.2 | Hypothyroidism | |
| Alopecia progressive neurological defects and endocrinopathy (ANE syndrome) | RBM28 | 7 | q32.1 | Alopecia | |
| Alopecia universalis congenita (ALUNC) | HR | 8 | p21.3 | Alopecia | |
| Alpha thalassemia | HBA1 | 16 | p13.3 | Microcephaly | |
| Alpha thalassemia | HBA2 | 16 | p13.3 | Microcephaly | |
| Alpha-1 antitrypsin deficiency | SERPINA1 | 14 | q32.1 | Tachycardia (>100 beats/minute) | |
| Alpha-fetoprotein hereditary persistence (HPAFP) | AFP | 4 | q13.3 | Copper metabolism defects | |
| Alpha-mannosidosis | MAN2B1 | 19 | p13.13 | Panic phobia anxiety | |
| Alpha-mannosidosis type 1 | MAN2B1 | 19 | p13.13 | Ataxia spectrum | |
| Alpha-mannosidosis type 2 | MAN2B1 | 19 | p13.13 | Cataracts | |
| Alpha-methylacyl-CoA racemase deficiency | AMACR | 5 | p13.2 | Ataxia spectrum | |
| ALS | ALS2 | 2 | q33.1 | ALS - amyotrophic lateral sclerosis | |
| ALS | ANG | 14 | q11.2 | ALS - amyotrophic lateral sclerosis | |
| ALS | ARHGAP32 | 11 | q24.3 | ALS - amyotrophic lateral sclerosis | |
| ALS | ATXN2 | 12 | q24.12 | ALS - amyotrophic lateral sclerosis | |
| ALS | C9orf72 | 9 | p21.2 | ALS - amyotrophic lateral sclerosis | |
| ALS | CHCHD10 | 22 | q11.23 | ALS - amyotrophic lateral sclerosis | |
| ALS | CHMP2B | 3 | p11.2 | ALS - amyotrophic lateral sclerosis | |
| ALS | DCTN1 | 2 | p13.1 | ALS - amyotrophic lateral sclerosis | |
| ALS | DPP6 | 7 | q36.2 | ALS - amyotrophic lateral sclerosis | |
| ALS | ERBB4 | 2 | q34 | ALS - amyotrophic lateral sclerosis | |
| ALS | FGGY | 1 | p32.1 | ALS - amyotrophic lateral sclerosis | |
| ALS | FIG4 | 6 | q21 | ALS - amyotrophic lateral sclerosis | |
| ALS | FUS | 16 | p11.2 | ALS - amyotrophic lateral sclerosis | |
| ALS | HNRNPA1 | 12 | q13.13 | ALS - amyotrophic lateral sclerosis | |
| ALS | IFT74 | 9 | p21.2 | ALS - amyotrophic lateral sclerosis | |
| ALS | IGFALS | 16 | p13.3 | ALS - amyotrophic lateral sclerosis | |
| ALS | IGHM | 14 | q32.33 | ALS - amyotrophic lateral sclerosis | |
| ALS | MATR3 | 5 | q31.2 | ALS - amyotrophic lateral sclerosis | |
| ALS | NEFH | 22 | q12.2 | ALS - amyotrophic lateral sclerosis | |
| ALS | OPTN | 10 | p13 | ALS - amyotrophic lateral sclerosis | |
| ALS | PRPH | 12 | q13.12 | ALS - amyotrophic lateral sclerosis | |
| ALS | RFX5 | 1 | q21.3 | ALS - amyotrophic lateral sclerosis | |
| ALS | SETX | 9 | q34.13 | ALS - amyotrophic lateral sclerosis | |
| ALS | SIGMAR1 | 9 | p13.3 | ALS - amyotrophic lateral sclerosis | |
| ALS | SMN1 | 5 | q13.2 | ALS - amyotrophic lateral sclerosis | |
| ALS | SOD1 | 21 | q22.11 | ALS - amyotrophic lateral sclerosis | |
| ALS | SPG11 | 15 | q21.1 | ALS - amyotrophic lateral sclerosis | |
| ALS | SPRED2 | 2 | p14 | ALS - amyotrophic lateral sclerosis | |
| ALS | SQSTM1 | 5 | q35.3 | ALS - amyotrophic lateral sclerosis | |
| ALS | TAF15 | 17 | q12 | ALS - amyotrophic lateral sclerosis | |
| ALS | TARDBP | 1 | p36.22 | ALS - amyotrophic lateral sclerosis | |
| ALS | TBK1 | 12 | q14.2 | ALS - amyotrophic lateral sclerosis | |
| ALS | TRPM7 | 15 | q21.2 | ALS - amyotrophic lateral sclerosis | |
| ALS | TUBA4A | 2 | q35 | ALS - amyotrophic lateral sclerosis | |
| ALS | UBQLN2 | 23 | p11.21 | ALS - amyotrophic lateral sclerosis | |
| ALS | VAPB | 20 | q13.32 | ALS - amyotrophic lateral sclerosis | |
| ALS | VCP | 9 | p13.3 | ALS - amyotrophic lateral sclerosis | |
| ALS | WNT7A | 3 | p25.1 | ALS - amyotrophic lateral sclerosis | |
| Alstrom syndrome | ALMS1 | 2 | p13.1 | Diabetes | |
| Alzheimer - early onset | APP | 21 | q21.3 | Alzheimer Syndrome | |
| Alzheimer - early onset | PSEN1 | 14 | q24.3 | Alzheimer Syndrome | |
| Alzheimer - early onset | PSEN2 | 1 | q42.13 | Alzheimer Syndrome | |
| Alzheimer - late onset | A2M | 12 | p13.31 | Alzheimer Syndrome | |
| Alzheimer - late onset | ABCA7 | 19 | p13.3 | Alzheimer Syndrome | |
| Alzheimer - late onset | ADAM19 | 5 | q33.3 | Alzheimer Syndrome | |
| Alzheimer - late onset | APBB2 | 4 | p13 | Alzheimer Syndrome | |
| Alzheimer - late onset | APOE | 19 | q13.2 | Alzheimer Syndrome | |
| Alzheimer - late onset | CD40 | 20 | p12-13.2 | Alzheimer Syndrome | |
| Alzheimer - late onset | COL25A1 | 4 | q25 | Alzheimer Syndrome | |
| Alzheimer - late onset | DNM1L | 12 | p11.21 | Alzheimer Syndrome | |
| Alzheimer - late onset | DOCK3 | 3 | p21.2 | Alzheimer Syndrome | |
| Alzheimer - late onset | GPC1 | 2 | q35-37 | Alzheimer Syndrome | |
| Alzheimer - late onset | MSR1 | 8 | p22 | Alzheimer Syndrome | |
| Alzheimer - late onset | NCKAP1 | 2 | q32.1 | Alzheimer Syndrome | |
| Alzheimer - late onset | OGT | 23 | q13 | Alzheimer Syndrome | |
| Alzheimer - late onset | OLR1 | 12 | p12.3-13.2 | Alzheimer Syndrome | |
| Alzheimer - late onset | PICALM | 11 | q14 | Alzheimer Syndrome | |
| Alzheimer - late onset | PLAU | 10 | q22.2 | Alzheimer Syndrome | |
| Alzheimer - late onset | PLD3 | 19 | q13.2 | Alzheimer Syndrome | |
| Alzheimer - late onset | RCAN1 | 21 | q22.12 | Alzheimer Syndrome | |
| Alzheimer - late onset | SEMA3A | 7 | p12.1 | Alzheimer Syndrome | |
| Alzheimer - late onset | SLC6A4 | 17 | q11.2 | Alzheimer Syndrome | |
| Alzheimer - late onset | SNCB | 5 | q35 | Alzheimer Syndrome | |
| Alzheimer - late onset | SORL1 | 11 | q23.2-24.2 | Alzheimer Syndrome | |
| Alzheimer - late onset | UBB | 17 | p11.2-12 | Alzheimer Syndrome | |
| Amish lethal microcephaly | SLC25A19 | 17 | q25.3 | Microcephaly | |
| Amyotrophic lateral sclerosis (ALS) | SOD1 | 21 | q22.1 | Copper metabolism defects | |
| Andermann syndrome | SLC12A6 | 15 | q13 | Cerebral palsy | |
| Androgenetic alopecia | AR | 23 | q12 | Alopecia | |
| ANGELMAN SYNDROME | AS | 15 | q11.2 | Autism spectrum | |
| Angelman`s Syndrome | OCA2 | 15 | q12-13.1 | Autism spectrum | |
| Angelman`s Syndrome | UBE3A | 15 | q11-q13 | Autism spectrum | |
| ANGIOTENSIN II RECEPTOR TYPE 2 | AGTR2 | 23 | q23 | Autism spectrum | |
| aniridia | PAX6 | 11 | p13 | Photophobia - sensitivity to light | |
| ANIRIDIA 1 | AN1 | 11 | p13 | Autism spectrum | |
| ANIRIDIA 2 | AN2 | 11 | p13 | Autism spectrum | |
| Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | TP63 | 3 | q28 | Cleft lip / cleft palate | |
| Anterior segment dysgenesis 1 (ASGD1) | PITX3 | 10 | q24.32 | Cataracts | |
| APECED Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy | AIRE | 21 | q22.3 | Alopecia | |
| Arginase deficiency | ARG1 | 6 | q23.2 | Ataxia spectrum | |
| Arginine glycine amidinotransferase deficiency | GATM | 15 | q21.1 | Autism spectrum | |
| ARMADILLO REPEAT GENE DELETED IN VCFS | ARVCF | 22 | q11.21 | Autism spectrum | |
| Arrhythmogenic right ventricular cardiomyopathy | DSC2 | 18 | q12.1 | Tachycardia (>100 beats/minute) | |
| Arrhythmogenic right ventricular cardiomyopathy | DSG2 | 18 | q12.1 | Tachycardia (>100 beats/minute) | |
| Arrhythmogenic right ventricular cardiomyopathy | DSP | 6 | p24 | Tachycardia (>100 beats/minute) | |
| Arrhythmogenic right ventricular cardiomyopathy | JUP | 17 | q21 | Tachycardia (>100 beats/minute) | |
| Arrhythmogenic right ventricular cardiomyopathy | PKP2 | 12 | p11 | Tachycardia (>100 beats/minute) | |
| Arrhythmogenic right ventricular cardiomyopathy | TGFB3 | 14 | q24 | Tachycardia (>100 beats/minute) | |
| Arrhythmogenic right ventricular cardiomyopathy | TMEM43 | 3 | p25.1 | Tachycardia (>100 beats/minute) | |
| ARTHROGRYPOSIS MENTAL RETARDATIONAND SEIZURES | AMRS | 1 | p21.2 | Autism spectrum | |
| Arthrogryposis - other | DMPK | 19 | q13.32 | Arthrogryposis spectrum | |
| Arthrogryposis - other | MYH13 | 17 | p13.1 | Arthrogryposis spectrum | |
| Arthrogryposis - other | MYH2 | 17 | p13.1 | Arthrogryposis spectrum | |
| Arthrogryposis - other | RAPSN | 11 | p11.2 | Arthrogryposis spectrum | |
| Arthrogryposis - other | SNM1 | 5 | q13.2 | Arthrogryposis spectrum | |
| Arthrogryposis - other | UBA1 | 23 | p11.3 | Arthrogryposis spectrum | |
| Arthrogryposis mental retardation and seizures (AMRS) | SLC35A3 | 1 | p21 | Arthrogryposis spectrum | |
| ARTHROGRYPOSIS MULTIPLEX CONGENITA NEUROGENIC TYPE | AMCN | 5 | q35.1 | Autism spectrum | |
| Arthrogryposis renal dysfunction and cholestasis syndrome 2 (ARCS2) | VIPAS39 | 14 | q24.3 | Arthrogryposis spectrum | |
| Arthrogryposis renal dysfunction and cholestasis syndrome 2 (ARCS2) | VPS33B | 15 | q26.1 | Arthrogryposis spectrum | |
| Arts syndrome | PRPS1 | 23 | q22.3 | Ataxia spectrum | |
| Asperger syndrome - classical | ASPG1 | 3 | q25-27 | Asperger`s | |
| Asperger syndrome - classical | ASPG2 | 17 | p13 | Asperger`s | |
| Asperger syndrome - classical | ASPG3 | 1 | q21-22 | Asperger`s | |
| Asperger syndrome - classical | ASPG4 | 3 | p24-21 | Asperger`s | |
| ASPERGER SYNDROME - X-LINKED | ASPGX1 | 23 | q13.1 | Autism spectrum | |
| ASPERGER SYNDROME - X-LINKED | ASPGX2 | 23 | p22.32-p22 | Autism spectrum | |
| Asperger X-linked 1 (APGX1) | NLGN3 | 23 | q13.1 | Asperger`s | |
| Asperger X-linked 2 (APGX2) | NLGN4X | 23 | p22.32 | Asperger`s | |
| aspirin-induced susceptibility to asthma | PTGER2 | 14 | q22.1 | Reye`s Syndrome-like diseases | |
| Asthma with nasal polyps and aspirin intolerance (ANPAI) | PTGER2 | 14 | q22 | Asthma | |
| Asthma with nasal polyps and aspirin intolerance (ANPAI) | TBX21 | 17 | q21.32 | Asthma | |
| Asthma-related traits (ASRT) | ADAM33 | 20 | p13 | Asthma | |
| Asthma-related traits (ASRT) | ADRB2 | 5 | q31-32 | Asthma | |
| Asthma-related traits (ASRT) | ALOX5 | 10 | q11.2 | Asthma | |
| Asthma-related traits (ASRT) | CCL11 | 17 | q12 | Asthma | |
| Asthma-related traits (ASRT) | CPN1 | 10 | q24.2 | Asthma | |
| Asthma-related traits (ASRT) | HAVCR1 | 5 | q33.2 | Asthma | |
| Asthma-related traits (ASRT) | IL12B | 5 | q33.3 | Asthma | |
| Asthma-related traits (ASRT) | IL13 | 5 | q31 | Asthma | |
| Asthma-related traits (ASRT) | IL4R | 16 | p11.2-12.1 | Asthma | |
| Asthma-related traits (ASRT) | MUC7 | 4 | q13.3 | Asthma | |
| Asthma-related traits (ASRT) | PLA2G7 | 6 | p12-21.2 | Asthma | |
| Asthma-related traits (ASRT) | SCGB3A2 | 5 | q32 | Asthma | |
| Asthma-related traits 1 (ASRT1) | PTGDR | 14 | q22.1 | Asthma | |
| Asthma-related traits 2 (ASRT2) | NPSR1 | 7 | p14.3 | Asthma | |
| Asthma-related traits 5 (ASRT5) | IRAK3 | 12 | q14.3 | Asthma | |
| Asthma-related traits 7 (ASRT7) | CHI3L1 | 1 | q32.1 | Asthma | |
| Ataxia neuropathy spectrum | POLG | 15 | q26.1 | Ataxia spectrum | |
| Ataxia neuropathy spectrum | TWNK | 10 | q24.31 | Ataxia spectrum | |
| Ataxia sensory autosomal dominant type 01 | RNF170 | 8 | p11.21 | Ataxia spectrum | |
| Ataxia with oculomotor apraxia | APTX | 9 | p21.1 | Ataxia spectrum | |
| Ataxia with oculomotor apraxia | PI3K | 17 | p13.1 | Ataxia spectrum | |
| Ataxia with oculomotor apraxia | PNKP | 19 | q13.33 | Ataxia spectrum | |
| Ataxia with oculomotor apraxia | SETX | 9 | q34.13 | Ataxia spectrum | |
| Ataxia with vitamin E deficiency | TTPA | 8 | q12.3 | Ataxia spectrum | |
| Ataxia-pancytopenia syndrome | SAMD9L | 7 | q21.2 | Ataxia spectrum | |
| Ataxia-telangiectasia | ATM | 11 | q22.3 | Ataxia spectrum | |
| Ataxia-telangiectasia | TOPB | 3 | p24.2 | Ataxia spectrum | |
| Atopic dermatitis | CARD11 | 7 | p22.2 | Alopecia | |
| Atopic dermatitis | FLG | 1 | q21.3 | Alopecia | |
| ATPase CLASS V TYPE 10A | ATP10A | 15 | q12 | Autism spectrum | |
| Atrial standstill 2 | NPPA | 1 | p36.21 | Bradycardia (<60 beats/minute) | |
| Atrichia with papular lesions | HR | 8 | p21.3 | Alopecia | |
| ATTENTION DEFICIT-HYPERACTIVITY DISORDER | ADHD1 | 16 | p13 | Autism spectrum | |
| ATTENTION DEFICIT-HYPERACTIVITY DISORDER | ADHD2 | 17 | p11 | Autism spectrum | |
| ATTENTION DEFICIT-HYPERACTIVITY DISORDER | ADHD3 | 6 | q12 | Autism spectrum | |
| ATTENTION DEFICIT-HYPERACTIVITY DISORDER | ADHD4 | 5 | p13 | Autism spectrum | |
| ATTENTION DEFICIT-HYPERACTIVITY DISORDER | DRD4 | 11 | p15.5 | Autism spectrum | |
| ATTENTION DEFICIT-HYPERACTIVITY DISORDER | DRD5 | 4 | p16.1 | Autism spectrum | |
| Atypical hemolytic-uremic syndrome | CFH | 1 | q32 | Tachycardia (>100 beats/minute) | |
| Auriculo-condylar syndrome | GNAI3 | 1 | p13 | Cleft lip / cleft palate | |
| Auriculo-condylar syndrome | PLCB4 | 20 | p12 | Cleft lip / cleft palate | |
| AUTISM | AUTS1 | 7 | q22 | Autism spectrum | |
| AUTISM | AUTS10 | 7 | q36 | Autism spectrum | |
| AUTISM | AUTS11 | 1 | q41-q42 | Autism spectrum | |
| AUTISM | AUTS12 | 21 | p13-q11 | Autism spectrum | |
| AUTISM | AUTS13 | 12 | q14.2 | Autism spectrum | |
| AUTISM | AUTS15 | 7 | q35-q36 | Autism spectrum | |
| AUTISM | AUTS16 | 3 | q24 | Autism spectrum | |
| AUTISM | AUTS17 | 11 | q13.3-q13. | Autism spectrum | |
| AUTISM | AUTS18 | 14 | q11.2 | Autism spectrum | |
| AUTISM | AUTS19 | 4 | q23 | Autism spectrum | |
| AUTISM | AUTS3 | 13 | q14.2-q14. | Autism spectrum | |
| AUTISM | AUTS4 | 15 | q11 | Autism spectrum | |
| AUTISM | AUTS6 | 17 | q11 | Autism spectrum | |
| AUTISM | AUTS7 | 17 | q21 | Autism spectrum | |
| AUTISM | AUTS8 | 3 | q25-q27 | Autism spectrum | |
| AUTISM | AUTS9 | 7 | q31 | Autism spectrum | |
| AUTISM - NOT SPECIFIED | KIAA0442 | 7 | q11.22 | Autism spectrum | |
| AUTISM - X-LINKED | AUTSX1 | 23 | q13.1 | Autism spectrum | |
| AUTISM - X-LINKED | AUTSX2 | 23 | p22.32-p22 | Autism spectrum | |
| AUTISM - X-LINKED | AUTSX3 | 23 | q28 | Autism spectrum | |
| AUTISM - X-LINKED | AUTSX4 | 23 | p22.11 | Autism spectrum | |
| AUTISM - X-LINKED | AUTSX5 | 23 | q28 | Autism spectrum | |
| AUTISM - X-LINKED | AUTSX6 | 23 | q28 | Autism spectrum | |
| Autism 16 with epilepsy (AUTS16) | KATNAL2 | 18 | q21.1 | Autism spectrum | |
| Autism 16 with epilepsy (AUTS16) | KDM5B | 1 | q32.1 | Autism spectrum | |
| Autism 16 with epilepsy (AUTS16) | SLC9A9 | 3 | q24 | Autism spectrum | |
| Autism 18 (AUTS18) | AB059369 | 4 | p16.1 | Autism spectrum | |
| Autism 18 (AUTS18) | ACTR3BP2 | 2 | p11.1-2 | Autism spectrum | |
| Autism 18 (AUTS18) | ADCY3 | 2 | p23.3 | Autism spectrum | |
| Autism 18 (AUTS18) | AGAP2 | 12 | q14.1 | Autism spectrum | |
| Autism 18 (AUTS18) | AK308561 | 9 | q13 | Autism spectrum | |
| Autism 18 (AUTS18) | ALG1L2 | 3 | q22.1 | Autism spectrum | |
| Autism 18 (AUTS18) | ANKRD30BP2 | 21 | q11.2 | Autism spectrum | |
| Autism 18 (AUTS18) | ASH1L | 1 | q22 | Autism spectrum | |
| Autism 18 (AUTS18) | BC042823 | 4 | p16.3 | Autism spectrum | |
| Autism 18 (AUTS18) | BC080605 | 9 | q13 | Autism spectrum | |
| Autism 18 (AUTS18) | CACNA2D3 | 3 | p21.1 | Autism spectrum | |
| Autism 18 (AUTS18) | CHD8 | 14 | q11.2 | Autism spectrum | |
| Autism 18 (AUTS18) | CIC | 19 | q13.2 | Autism spectrum | |
| Autism 18 (AUTS18) | CLASP1 | 2 | q14.3 | Autism spectrum | |
| Autism 18 (AUTS18) | CNOT3 | 19 | q13.42 | Autism spectrum | |
| Autism 18 (AUTS18) | CROCC | 1 | p36.13 | Autism spectrum | |
| Autism 18 (AUTS18) | DHRS4 | 14 | q11.2 | Autism spectrum | |
| Autism 18 (AUTS18) | DHRS4L1 | 14 | q11.2 | Autism spectrum | |
| Autism 18 (AUTS18) | DHRS4L2 | 14 | q11.2 | Autism spectrum | |
| Autism 18 (AUTS18) | DIP2C | 10 | p15.3 | Autism spectrum | |
| Autism 18 (AUTS18) | DQ584669 | 4 | p16.3 | Autism spectrum | |
| Autism 18 (AUTS18) | EN2 | 7 | q36.3 | Autism spectrum | |
| Autism 18 (AUTS18) | FAM47A | 23 | p21.1 | Autism spectrum | |
| Autism 18 (AUTS18) | FAM86EP | 4 | p16.3 | Autism spectrum | |
| Autism 18 (AUTS18) | FAM86FP | 12 | p13.31 | Autism spectrum | |
| Autism 18 (AUTS18) | FAM86HP | 3 | q22.1 | Autism spectrum | |
| Autism 18 (AUTS18) | FAM90A1 | 12 | p13.31 | Autism spectrum | |
| Autism 18 (AUTS18) | FLJ20518 | 3 | p12.3 | Autism spectrum | |
| Autism 18 (AUTS18) | GGT8P | 2 | p11.1-2 | Autism spectrum | |
| Autism 18 (AUTS18) | GIGYF1 | 7 | q22.1 | Autism spectrum | |
| Autism 18 (AUTS18) | GSTTP2 | 22 | q11.23 | Autism spectrum | |
| Autism 18 (AUTS18) | HECTD4 | 12 | q24.13 | Autism spectrum | |
| Autism 18 (AUTS18) | KDM6B | 17 | p13.1 | Autism spectrum | |
| Autism 18 (AUTS18) | KMT2C | 7 | q36.1 | Autism spectrum | |
| Autism 18 (AUTS18) | LINC00937 | 12 | p13.31 | Autism spectrum | |
| Autism 18 (AUTS18) | LOC401074 | 3 | p12.3 | Autism spectrum | |
| Autism 18 (AUTS18) | LOC642236 | 9 | q13 | Autism spectrum | |
| Autism 18 (AUTS18) | LOC654342 | 2 | p11.1-2 | Autism spectrum | |
| Autism 18 (AUTS18) | LONRF1 | 8 | p23.1 | Autism spectrum | |
| Autism 18 (AUTS18) | MED13 | 17 | q23.2 | Autism spectrum | |
| Autism 18 (AUTS18) | MED13L | 12 | q24.21 | Autism spectrum | |
| Autism 18 (AUTS18) | MED27 | 9 | q34.13 | Autism spectrum | |
| Autism 18 (AUTS18) | Mir_544 | 2 | p11.1-2 | Autism spectrum | |
| Autism 18 (AUTS18) | MIR1324 | 3 | p12.3 | Autism spectrum | |
| Autism 18 (AUTS18) | MIR3926-1 | 8 | p23.1 | Autism spectrum | |
| Autism 18 (AUTS18) | MIR3926-2 | 8 | p23.1 | Autism spectrum | |
| Autism 18 (AUTS18) | MIR4273 | 3 | p12.3 | Autism spectrum | |
| Autism 18 (AUTS18) | MIR548I2 | 4 | p16.1 | Autism spectrum | |
| Autism 18 (AUTS18) | NAA15 | 4 | q31.1 | Autism spectrum | |
| Autism 18 (AUTS18) | NBEA | 13 | q13.3 | Autism spectrum | |
| Autism 18 (AUTS18) | OTOP1 | 4 | p16.3 | Autism spectrum | |
| Autism 18 (AUTS18) | PARK2 | 6 | q26 | Autism spectrum | |
| Autism 18 (AUTS18) | PAX5 | 9 | p13.2 | Autism spectrum | |
| Autism 18 (AUTS18) | PCDH11X | 23 | q21.31 | Autism spectrum | |
| Autism 18 (AUTS18) | PER2 | 2 | q37.3 | Autism spectrum | |
| Autism 18 (AUTS18) | PHF2 | 9 | q22.31 | Autism spectrum | |
| Autism 18 (AUTS18) | PHF3 | 6 | q12 | Autism spectrum | |
| Autism 18 (AUTS18) | PRAMEF13 | 1 | p36.21 | Autism spectrum | |
| Autism 18 (AUTS18) | PRAMEF16 | 1 | p36.21 | Autism spectrum | |
| Autism 18 (AUTS18) | PRAMEF19 | 1 | p36.21 | Autism spectrum | |
| Autism 18 (AUTS18) | PRAMEF20 | 1 | p36.21 | Autism spectrum | |
| Autism 18 (AUTS18) | PRAMEF8 | 1 | p36.21 | Autism spectrum | |
| Autism 18 (AUTS18) | PRAMEF9 | 1 | p36.21 | Autism spectrum | |
| Autism 18 (AUTS18) | PRDM5 | 4 | q27 | Autism spectrum | |
| Autism 18 (AUTS18) | RABGAP1L | 1 | q25.1 | Autism spectrum | |
| Autism 18 (AUTS18) | RYR3 | 15 | q13.3 | Autism spectrum | |
| Autism 18 (AUTS18) | SMARCC2 | 12 | q13.2 | Autism spectrum | |
| Autism 18 (AUTS18) | SRSF11 | 1 | p31.1 | Autism spectrum | |
| Autism 18 (AUTS18) | TBR1 | 2 | q24.2 | Autism spectrum | |
| Autism 18 (AUTS18) | TNRC6B | 22 | q13.1 | Autism spectrum | |
| Autism 18 (AUTS18) | UBN2 | 7 | q34 | Autism spectrum | |
| Autism 18 (AUTS18) | UGT2B15 | 4 | q13.2 | Autism spectrum | |
| Autism 18 (AUTS18) | UGT2B17 | 4 | q13.2 | Autism spectrum | |
| Autism 18 (AUTS18) | WDFY3 | 4 | q21.23 | Autism spectrum | |
| Autism 18 (AUTS18) | ZNF717 | 3 | p12.3 | Autism spectrum | |
| Autism with cortical dysplasia-focal epilepsy syndrome | CNTNAP2 | 7 | q35 | Autism spectrum | |
| Autism X-linked 1 (AUTSX1) | NLGN3 | 23 | q13.1 | Autism spectrum | |
| Autism X-linked 2 (AUTSX2) | NLGN4X | 23 | p22.33 | Autism spectrum | |
| Autism X-linked 4 (AUTSX4) | PTCHD1 | 23 | p22.11 | Autism spectrum | |
| Autism X-linked 5 (AUTSX5) | RPL10 | 23 | q28 | Autism spectrum | |
| Autoimmune lymphoproliferative syndrome | CASP10 | 2 | q33.1 | Guillain-Barre spectrum | |
| Autoimmune lymphoproliferative syndrome | CASP8 | 2 | q33.1 | Guillain-Barre spectrum | |
| Autoimmune lymphoproliferative syndrome | FAS | 10 | q23.31 | Guillain-Barre spectrum | |
| Autoimmune lymphoproliferative syndrome | FASLG | 1 | q24.3 | Guillain-Barre spectrum | |
| Autoimmune lymphoproliferative syndrome | KRAS | 12 | p12.1 | Guillain-Barre spectrum | |
| Autoimmune lymphoproliferative syndrome | NRAS | 1 | p13.2 | Guillain-Barre spectrum | |
| Autosomal dominant cerebellar ataxia deafness and narcolepsy | DNMT1 | 19 | p13.2 | Ataxia spectrum | |
| Autosomal dominant cerebellar ataxias | ATXN7 | 3 | p14.1 | Ataxia spectrum | |
| Autosomal dominant leukodystrophy with autonomic disease | LMNB1 | 5 | q23.2 | Ataxia spectrum | |
| Autosomal dominant nocturnal frontal lobe epilepsy | CHRNA2 | 8 | p21.2 | Epilepsy and seizures | |
| Autosomal dominant nocturnal frontal lobe epilepsy | CHRNA4 | 20 | q13.33 | Epilepsy and seizures | |
| Autosomal dominant nocturnal frontal lobe epilepsy | CHRNB2 | 1 | q21.3 | Epilepsy and seizures | |
| Autosomal dominant nocturnal frontal lobe epilepsy | KCNT1 | 9 | q34.3 | Epilepsy and seizures | |
| Autosomal dominant optic atrophy and cataract (ADOAC) | OPA3-one | 19 | q13.32 | Cataracts | |
| Autosomal dominant partial epilepsy with auditory features | LGI1 | 10 | q23.33 | Epilepsy and seizures | |
| Autosomal dominant vitreoretinochoroidopathy (ADVIRC) | BEST1 | 11 | q12.3 | Cataracts | |
| Autosomal recessive cerebellar ataxia type 01 | SYNE1 | 6 | q25.2 | Ataxia spectrum | |
| Autosomal recessive hyper-IgE syndrome (AR-HIES) | DOCK8 | 9 | p24.3 | Asthma | |
| Autosomal recessive hypotrichosis | DSG4 | 18 | q12.1 | Alopecia | |
| Autosomal recessive hypotrichosis | LIPH | 3 | q27.2 | Alopecia | |
| Autosomal recessive hypotrichosis | LPAR6 | 13 | q14.2 | Alopecia | |
| Autosomal recessive primary microcephaly | ASPM | 1 | q31 | Microcephaly | |
| Autosomal recessive primary microcephaly | CDK5RAP2 | 9 | q33.2 | Microcephaly | |
| Autosomal recessive primary microcephaly | CENPJ | 13 | q12.12 | Microcephaly | |
| Autosomal recessive primary microcephaly | CEP152 | 15 | q21.1 | Microcephaly | |
| Autosomal recessive primary microcephaly | MCPH1 | 8 | p23.1 | Microcephaly | |
| Autosomal recessive primary microcephaly | STIL | 1 | p32 | Microcephaly | |
| Autosomal recessive primary microcephaly | WDR62 | 19 | q13.12 | Microcephaly | |
| Autosomal recessive spastic ataxia of Charlevoix-Saguenay | SACS | 13 | q12.12 | Ataxia spectrum | |
| Autosomal recessive spinocerebellar ataxia | ZNF592 | 15 | q25.3 | Ataxia spectrum | |
| AUTS14A - 16p11.2 deletion syndrome | AUTS14A | 16 | p11.2 | Autism spectrum | |
| AUTS14B replication syndrome | AUTS14B | 16 | p11.2 | Autism spectrum | |