Disease #00013 (HSAN (Hereditary Sensory and Autonomic Neuropathy), OMIM:201300)

Official abbreviation	HSAN
Name	Hereditary Sensory and Autonomic Neuropathy
OMIM ID	201300
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	-
Individuals reported having this disease	88
Phenotype entries for this disease	-
Associated with 9 genes	FAM134B, IKBKAP, NGF, NTRK1, PRNP, RAB7A, SPTLC1, SPTLC2, WNK1
Associated tissues	-
Disease features	-
Remarks	-

Individuals

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Reference: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.

Ethnic origin: The ethnic origin of the individual; e.g. African, Caucasian, gypsy, jew (Ashkenazi).

Remarks: Remarks about the individual.

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

How to query this table

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Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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88 entries on 1 page. Showing entries 1 - 88.

Legend

How to query

Individual ID	Reference	Ethnic origin	Remarks	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00001637	Dawkins JL1, Hulme DJ, Brahmbhatt SB, Auer-Grumbach M, Nicholson GA.(2001)	-	-	HSAN	-	SPTLC1	SPTLC1	1	1	Y Yang
00001638	Dawkins JL1, Hulme DJ, Brahmbhatt SB, Auer-Grumbach M, Nicholson GA.(2001)	-	-	HSAN	-	SPTLC1	SPTLC1	1	1	Y Yang
00001639	Dawkins JL1, Hulme DJ, Brahmbhatt SB, Auer-Grumbach M, Nicholson GA.(2001)	-	-	HSAN	-	SPTLC1	SPTLC1	1	1	Y Yang
00001640	"Rotthier A1, Baets J, De Vriendt E, Jacobs A, Auer-Grumbach M, Lévy N, Bonello-Palot N, Kilic SS, Weis J, Nascimento A, Swinkels M, Kruyt MC, Jordanova A, De Jonghe P(2009)	-	-	HSAN	-	SPTLC1	SPTLC1	1	1	Y Yang
00001641	"Rotthier A1, Baets J, De Vriendt E, Jacobs A, Auer-Grumbach M, Lévy N, Bonello-Palot N, Kilic SS, Weis J, Nascimento A, Swinkels M, Kruyt MC, Jordanova A, De Jonghe P(2009)	-	-	HSAN	-	SPTLC1	SPTLC1	1	1	Y Yang
00001642	"Rotthier A1, Auer-Grumbach M, Janssens K, Baets J, Penno A, Almeida-Souza L, Van Hoof K, Jacobs A, De Vriendt E, Schlotter-Weigel B, L?scher W, Vondrá?ek P, Seeman P(2010)	-	-	HSAN	-	SPTLC2	SPTLC2	1	1	Y Yang
00001643	"Rotthier A1, Auer-Grumbach M, Janssens K, Baets J, Penno A, Almeida-Souza L, Van Hoof K, Jacobs A, De Vriendt E, Schlotter-Weigel B, L?scher W, Vondrá?ek P, Seeman P(2010)	-	-	HSAN	-	SPTLC2	SPTLC2	1	1	Y Yang
00001644	"Rotthier A1, Auer-Grumbach M, Janssens K, Baets J, Penno A, Almeida-Souza L, Van Hoof K, Jacobs A, De Vriendt E, Schlotter-Weigel B, L?scher W, Vondrá?ek P, Seeman P(2010)	-	-	HSAN	-	SPTLC2	SPTLC2	1	1	Y Yang
00001645	Verhoeven K1, De Jonghe P, Coen K, Verpoorten N, Auer-Grumbach M, Kwon JM, FitzPatrick D, Schmedding E, De Vriendt E, Jacobs A, Van Gerwen V, Wagner K, Hartung HP, Timmerman V.(2003)	-	-	HSAN	-	RAB7A	RAB7A	1	1	Y Yang
00001646	Verhoeven K1, De Jonghe P, Coen K, Verpoorten N, Auer-Grumbach M, Kwon JM, FitzPatrick D, Schmedding E, De Vriendt E, Jacobs A, Van Gerwen V, Wagner K, Hartung HP, Timmerman V.(2003)	-	-	HSAN	-	RAB7A	RAB7A	1	1	Y Yang
00001647	Houlden H1, King RH, Muddle JR, Warner TT, Reilly MM, Orrell RW, Ginsberg L.(2004)	-	-	HSAN	-	RAB7A	RAB7A	1	1	Y Yang
00001648	Meggouh F1, Bienfait HM, Weterman MA, de Visser M, Baas F.(2006)	-	-	HSAN	-	RAB7A	RAB7A	1	1	Y Yang
00001649	"Slaugenhaupt SA1, Blumenfeld A, Gill SP, Leyne M, Mull J, Cuajungco MP, Liebert CB, Chadwick B, Idelson M, Reznik L, Robbins C, Makalowska I, Brownstein M, Krappmann D(2001)	-	-	HSAN	-	IKBKAP	IKBKAP	1	1	Y Yang
00001650	"Slaugenhaupt SA1, Blumenfeld A, Gill SP, Leyne M, Mull J, Cuajungco MP, Liebert CB, Chadwick B, Idelson M, Reznik L, Robbins C, Makalowska I, Brownstein M, Krappmann D(2001)	-	-	HSAN	-	IKBKAP	IKBKAP	1	1	Y Yang
00001651	"Blumenfeld A1, Slaugenhaupt SA, Liebert CB, Temper V, Maayan C, Gill S, Lucente DE, Idelson M, MacCormack K, Monahan MA, Mull J, Leyne M, Mendillo M, Schiripo T, Mishori E(1999)	-	-	HSAN	-	IKBKAP	IKBKAP	1	1	Y Yang
00001652	Einarsdottir E1, Carlsson A, Minde J, Toolanen G, Svensson O, Solders G, Holmgren G, Holmberg D, Holmberg M.(2004)	-	-	HSAN	-	NGF	NGF	1	1	Y Yang
00001653	Carvalho OP1, Thornton GK, Hertecant J, Houlden H, Nicholas AK, Cox JJ, Rielly M, Al-Gazali L, Woods CG.(2011)	-	-	HSAN	-	NGF	NGF	1	1	Y Yang
00001654	Carvalho OP1, Thornton GK, Hertecant J, Houlden H, Nicholas AK, Cox JJ, Rielly M, Al-Gazali L, Woods CG.(2011)	-	-	HSAN	-	NGF	NGF	1	1	Y Yang
00001655	Murphy SM, Davidson GL, Brandner S, Houlden H, Reilly MM.(2012)	-	-	HSAN	-	FAM134B	FAM134B	1	1	Y Yang
00001656	Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001657	Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001658	Bodzioch M1, Lapicka K, Aslanidis C, Kacinski M, Schmitz G.(2001)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001659	Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001660	Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001661	Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001662	Shatzky S1, Moses S, Levy J, Pinsk V, Hershkovitz E, Herzog L, Shorer Z, Luder A, Parvari R.(2000)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001663	Indo Y1, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, Mitsubuchi H, Tonoki H, Awaya Y, Matsuda I.(1996)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001664	Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001665	Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001666	Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001667	Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001668	Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001669	Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001670	Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001671	Mardy S1, Miura Y, Endo F, Matsuda I, Indo Y.(2001)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001672	Bodzioch M1, Lapicka K, Aslanidis C, Kacinski M, Schmitz G.(2001)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001673	Indo Y1, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, Mitsubuchi H, Tonoki H, Awaya Y, Matsuda I.(1996)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001674	Greco A, Villa R, Tubino B, Romano L, Penso D, Pierotti MA.(1999)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001675	Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001676	Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001677	Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001678	Shatzky S1, Moses S, Levy J, Pinsk V, Hershkovitz E, Herzog L, Shorer Z, Luder A, Parvari R.(2000)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001679	Houlden H1, King RH, Hashemi-Nejad A, Wood NW, Mathias CJ, Reilly M, Thomas PK.(2001)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001680	Yotsumoto S1, Setoyama M, Hozumi H, Mizoguchi S, Fukumaru S, Kobayashi K, Saheki T, Kanzaki T.(1999)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001681	Bodzioch M1, Lapicka K, Aslanidis C, Kacinski M, Schmitz G.(2001)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001682	Bodzioch M1, Lapicka K, Aslanidis C, Kacinski M, Schmitz G.(2001)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001683	Mardy S1, Miura Y, Endo F, Matsuda I, Indo Y.(2001)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001684	Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001685	Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001686	Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001687	Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001688	Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001689	Indo Y1, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, Mitsubuchi H, Tonoki H, Awaya Y, Matsuda I.(1996)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001690	Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001691	Bodzioch M1, Lapicka K, Aslanidis C, Kacinski M, Schmitz G.(2001)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001692	Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001693	Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001694	Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001695	Shatzky S1, Moses S, Levy J, Pinsk V, Hershkovitz E, Herzog L, Shorer Z, Luder A, Parvari R.(2000)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001696	Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001697	Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001698	Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001699	Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001700	Greco A, Villa R, Tubino B, Romano L, Penso D, Pierotti MA.(1999)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001701	Wieczorek S1, Bergstr?m J, S??f M, K?tting J, Iwarsson E.(2008)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001702	"Davidson G1, Murphy S, Polke J, Laura M, Salih M, Muntoni F, Blake J, Brandner S, Davies N, Horvath R, Price S, Donaghy M, Roberts M, Foulds N, Ramdharry G, Soler D, Lunn M(2012)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001703	"Davidson G1, Murphy S, Polke J, Laura M, Salih M, Muntoni F, Blake J, Brandner S, Davies N, Horvath R, Price S, Donaghy M, Roberts M, Foulds N, Ramdharry G, Soler D, Lunn M(2012)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001704	Jung CL1, Ki CS, Kim BJ, Lee JH, Sung KS, Kim JW, Park YS.(2013)	-	-	HSAN	-	NTRK1	NTRK1	1	1	Y Yang
00001705	"Davidson G1, Murphy S, Polke J, Laura M, Salih M, Muntoni F, Blake J, Brandner S, Davies N, Horvath R, Price S, Donaghy M, Roberts M, Foulds N, Ramdharry G, Soler D, Lunn M(2012)	-	-	HSAN	-	RAB7A	RAB7A	1	1	Y Yang
00001706	"Davidson G1, Murphy S, Polke J, Laura M, Salih M, Muntoni F, Blake J, Brandner S, Davies N, Horvath R, Price S, Donaghy M, Roberts M, Foulds N, Ramdharry G, Soler D, Lunn M(2012)	-	-	HSAN	-	SPTLC1	SPTLC1	1	1	Y Yang
00001707	Auer-Grumbach M1, Bode H, Pieber TR, Schabhüttl M, Fischer D, Seidl R, Graf E, Wieland T, Schuh R, Vacariu G, Grill F, Timmerman V, Strom TM, Hornemann T.(2013)	-	-	HSAN	-	SPTLC1	SPTLC1	1	1	Y Yang
00001708	Suh BC1, Hong YB2, Nakhro K3, Nam SH3, Chung KW3, Choi BO2.(2014)	-	-	HSAN	-	SPTLC1	SPTLC1	1	1	Y Yang
00001709	Auer-Grumbach M1, Bode H, Pieber TR, Schabhüttl M, Fischer D, Seidl R, Graf E, Wieland T, Schuh R, Vacariu G, Grill F, Timmerman V, Strom TM, Hornemann T.(2013)	-	-	HSAN	-	SPTLC1	SPTLC1	1	1	Y Yang
00001710	"Davidson G1, Murphy S, Polke J, Laura M, Salih M, Muntoni F, Blake J, Brandner S, Davies N, Horvath R, Price S, Donaghy M, Roberts M, Foulds N, Ramdharry G, Soler D, Lunn M(2012)	-	-	HSAN	-	FAM134B	FAM134B	1	1	Y Yang
00001711	"Davidson G1, Murphy S, Polke J, Laura M, Salih M, Muntoni F, Blake J, Brandner S, Davies N, Horvath R, Price S, Donaghy M, Roberts M, Foulds N, Ramdharry G, Soler D, Lunn M(2012)	-	-	HSAN	-	FAM134B	FAM134B	1	1	Y Yang
00001712	Ilgaz Aydinlar E1, Rolfs A, Serteser M, Parman Y.(2014)	Turkish	-	HSAN	-	FAM134B	FAM134B	1	1	Y Yang
00001713	Themistocleous AC1, Kennett R, Husain M, Palace J, Mead S, Bennett DL.(2014)	-	-	HSAN	-	PRNP	PRNP	1	1	Y Yang
00005586	Ernst D et al. (2015)	-	-	HSAN	-	SPTLC2	SPTLC2	1	1	XY Liu
00005589	Shaikh SS et al. (2017)	-	-	HSAN	-	NTRK1	NTRK1	1	1	XY Liu
00005590	Shaikh SS et al. (2017)	-	-	HSAN	-	NTRK1	NTRK1	1	1	XY Liu
00005591	Shaikh SS et al. (2017)	-	-	HSAN	-	NTRK1	NTRK1	1	1	XY Liu
00005592	Shaikh SS et al. (2017)	-	-	HSAN	-	NTRK1	NTRK1	1	1	XY Liu
00005593	Shaikh SS et al. (2017)	-	-	HSAN	-	NTRK1	NTRK1	1	1	XY Liu
00005594	Shaikh SS et al. (2017)	-	-	HSAN	-	NTRK1	NTRK1	1	1	XY Liu
00005595	Shaikh SS et al. (2017)	-	-	HSAN	-	NTRK1	NTRK1	1	1	XY Liu
00005597	Algahtani H et al. (2016)	-	-	HSAN	-	NTRK1	NTRK1	1	1	XY Liu
00005598	Gao LH et al. (2016)	-	-	HSAN	-	WNK1	WNK1	1	1	XY Liu
00005599	Yuan JH et al. (2017)	-	-	HSAN	-	WNK1	WNK1	1	1	XY Liu

Legend

How to query

NDDVD - Neurodegenerative Diseases Variation Database

KIFAP3 (kinesin associated protein 3)