Uniprot AC Symbol HGNC_ID OMIM Publications sig_ASD sig_meta Known_previously Kaplanis_gene_new P53680 AP2S1 565 mim:600740 -- Hypocalciuric hypercalcemia, type III (AD) Yes No No y P84077 ARF1 652 mim:618615 -- Periventricular nodular heterotopia 8 (AD) https://www.ncbi.nlm.nih.gov/pubmed/28868155 No No Yes y Q9NRY4 ARHGAP35 4591 None No No No y Q93050 ATP6V0A1 865 None https://www.ncbi.nlm.nih.gov/pubmed/30842224 No No No y Q9BUQ8 DDX23 17347 None No No No y P15924 DSP 3052 "mim:607450 -- Arrhythmogenic right ventricular dysplasia 8 (AD) mim:605676 -- Cardiomyopathy, dilated, with woolly hair and keratoderma (AR) mim:615821 -- Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (AD) mim:609638 -- Epidermolysis bullosa, lethal acantholytic (AR) mim:612908 -- Keratosis palmoplantaris striata II (AD) mim:607655 -- Skin fragility-woolly hair syndrome (AR)" Multiple No No Yes y Q969H0 FBXW7 16712 None No No No y O75420 GIGYF1 9126 None Yes No No y P62879 GNB2 4398 None No No No y P84243 H3F3A 4764 None https://www.ncbi.nlm.nih.gov/pubmed/31942419 No No No y Q14103 HNRNPD 5036 None No Yes No y O14649 KCNK3 6278 mim:615344 -- Pulmonary hypertension, primary, 4 (AD) No No No y O95140 MFN2 16877 "mim:609260 -- Charcot-Marie-Tooth disease, axonal, type 2A2A (AD) mim:617087 -- Charcot-Marie-Tooth disease, axonal, type 2A2B (AR) mim:601152 -- Hereditary motor and sensory neuropathy VIA (AD)" Multiple No No Yes y Q86YT6 MIB1 21086 mim:615092 -- Left ventricular noncompaction 7 (AD) https://www.ncbi.nlm.nih.gov/pubmed/30322850 No No Yes y Q8N4V1 MMGT1 28100 None No No No y Q9HCI7 MSL2 25544 None https://www.ncbi.nlm.nih.gov/pubmed/31332282 No No No y P31321 PRKAR1B 9390 None https://www.ncbi.nlm.nih.gov/pubmed/24722252 No No No y Q6P2Q9 PRPF8 17340 mim:600059 -- Retinitis pigmentosa 13 (AD) No No Yes y P62195 PSMC5 9552 None No No No y P61106 RAB14 16524 None No No No y Q01826 SATB1 10541 None Yes No No y Q96T58 SPEN 17575 None No Yes No y Q9UQ35 SRRM2 16639 None No Yes No y Q9NQB0 TCF7L2 11641 mim:125853 -- {Diabetes mellitus, type 2, susceptibility to} Yes Yes No y P19532 TFE3 11752 mim:300853 -- Renal cell carcinoma, papillary, 1 "https://www.ncbi.nlm.nih.gov/pubmed/30595499 https://www.ncbi.nlm.nih.gov/pubmed/31833172" No No Yes y P26368 U2AF2 23156 None No Yes No y Q92900 UPF1 9962 None No No No y Q86UP3 ZFHX4 30939 mim:178300 -- ?Ptosis, congenital (AD) https://www.ncbi.nlm.nih.gov/pubmed/11935336 No No No y